bims-barned Biomed News
on BBB and Neurodegeneration-ALS
Issue of 2026–08–16
78 papers selected by
Luca Bolliger, lxBio



  1. Arq Neuropsiquiatr. 2026 Jul;84(7): 1-4
       Abstract: In 1869, Charcot and Alix Joffroy published the first detailed clinical and neuropathological description of amyotrophic lateral sclerosis (ALS), establishing the correlation involving muscle weakness, atrophy, spasticity, and degeneration of the lateral corticospinal tracts. Charcot unified the involvement of upper and lower motor neurons into a single clinical entity. His pioneering description was limited to the motor system, reflecting the scientific constraints of his time. Charcot interpreted ALS primarily as a disorder of the motor system, a conclusion consistent with the clinical and pathological methods available in the late nineteenth century. Neurological investigation at that time relied mainly on detailed clinical observation, anatomical correlation at autopsy, and relatively-simple physiological techniques. These approaches were well suited to identify motor dysfunction but were far less capable of revealing subtle cognitive or behavioral alterations. Currently, ALS is recognized as a multisystem neurodegenerative disorder. Thus, Charcot's historical contribution was crucial for the initial understanding of ALS, while modern perspectives acknowledge its broader clinical complexity beyond the motor system.
    DOI:  https://doi.org/10.1055/s-0046-1827042
  2. J Neuroimmune Pharmacol. 2026 Aug 12. pii: 38. [Epub ahead of print]21(1):
      The cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) pathway is an essential cytosolic DNA-sensing system that plays an important role in the regulation of innate immune and inflammatory responses in the central nervous system (CNS). It was first discovered as a promising antiviral defense cascade and has since been shown to execute broader functions in neuroinflammation and neurodegeneration. The pathway can become hyperactive with the release of endogenous DNA from damaged nuclei, mitochondria, or genomic instability, leading to chronic production of type I interferon (TI-IFN), various pro-inflammatory cytokines, and eventually contributing to chronic neuroinflammatory diseases. Recent studies have found that dysregulated cGAS-STING signaling is associated with several neurological disorders, such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), amyotrophic lateral sclerosis (ALS), traumatic brain injury (TBI), stroke, and age-related neurodegeneration. In the CNS, chronic activation of this pathway leads to activation of microglia, oxidative stress, breakdown of the blood-brain barrier (BBB), impaired function of the synapses, and neuronal death. Mitochondrial dysfunction and cytosolic release of mitochondrial DNA (mtDNA) further promote inflammatory signaling, thus perpetuating neurodegeneration. This review highlights the molecular and pathological mechanisms of cGAS-STING signaling in a broader aspect of neurological disorders and appraises the novel therapeutics already under development to inhibit this pathway to regulate neuroinflammation and enhance neurological outcomes.
    Keywords:  IRF3; NF-κB; Neurological diseases; STING inhibitors; Signaling pathways; cGAS-STING
    DOI:  https://doi.org/10.1007/s11481-026-10307-9
  3. Clin Neurophysiol Pract. 2026 ;11 512-521
       Objective: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease marked by upper and lower motor neuron loss. Diagnosing ALS may still be challenging due to the absence of specific biomarkers and requires thorough clinical evaluation, comprehensive electromyography (EMG), and exclusion of differential diagnoses by laboratory analyses and imaging. The Gold Coast criteria (GCC) replaced the revised El Escorial (rEEC) and Awaji criteria (AC), simplifying ALS diagnosis and standardizing communication with patients.
    Methods: This retrospective study compared the sensitivity of the GCC with the rEEC and AC in a specialized neuromuscular center.
    Results: 431 patients with suspected ALS were included, and 426 patients ultimately received an ALS diagnosis. The GCC showed higher sensitivity than both the rEEC and AC. The explorative inclusion of neurofilament levels into an extended diagnostic framework did not increase the sensitivity of rEEC and AC.
    Conclusions: Continued clinical use of the GCC should be considered the standard for ALS diagnosis. Careful clinical and electrophysiological examination is particularly essential in this context, supplemented by biomarkers such as neurofilaments.
    Significance: This retrospective real-world study demonstrates a high sensitivity of the GCC in a specialized neuromuscular clinic.
    Keywords:  Amyotrophic lateral sclerosis; Biomarkers; Gold coast criteria; Neurofilaments; Sensitivity
    DOI:  https://doi.org/10.1016/j.cnp.2026.06.004
  4. Mutat Res Genet Toxicol Environ Mutagen. 2026 Jul;pii: S1383-5718(26)00037-9. [Epub ahead of print]913 503953
      Genetic instability has been reported in several neurodegenerative diseases, such as Alzheimer's and Parkinson's, but only a few studies have addressed sclerosis. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Micronuclei (MNi) and nuclear buds (NBUDs) are established markers of chromosomal instability, yet no data are available regarding a possible link between genetic instability and ALS. The novelty of this case-control study lies in the assessment of genetic instability in oral exfoliated cells from ALS patients (n = 20) and matched controls (n = 20), contributing to the identification of potential novel markers related to the molecular pathogenesis of this severe disorder. Groups were matched for age, sex, and lifestyle (p > 0.05). No significant differences were observed in MNi or NBUD frequencies between groups (p > 0.05). These findings suggest no association between ALS and MN/NBUD frequencies in oral cells.
    Keywords:  Buccal mucosa; Human; Lou Gehrig disease; Micronucleus; Neurodegenerative disease
    DOI:  https://doi.org/10.1016/j.mrgentox.2026.503953
  5. Neurol Neurochir Pol. 2026 Aug 13.
      
    Keywords:  SOD1 mutation; amyotrophic lateral sclerosis; hypersensitivity reaction; tofersen
    DOI:  https://doi.org/10.5603/pjnns.113584
  6. Amyotroph Lateral Scler Frontotemporal Degener. 2026 Aug 11. 1-9
      Objective: Young-onset amyotrophic lateral sclerosis (ALS), defined as symptom onset at or before 45 years, remains poorly characterized in Chinese patients. We aimed to describe its clinical and genetic features and compare them with adult-onset ALS. Methods: We retrospectively analyzed 536 young-onset ALS patients registered at Peking Union Medical College Hospital (2014-2022) alongside 1136 adult-onset patients (onset >45 years). Whole exome sequencing targeting 41 established ALS-related genes was performed in all young-onset patients. Results: Young-onset ALS accounted for 32.0% of the cohort, with a median onset age of 39.5 years (IQR 34.25-44.0). Compared with adult-onset patients, young-onset cases had less bulbar onset (14.2% vs. 19.5%, p = 0.008), more frequent predominant upper motor neuron phenotype (25.9% vs. 15.4%, p < 0.001), higher baseline ALSFRS-R scores (p < 0.001), slower progression (p = 0.001), and longer median survival (36 vs. 30 months, p = 0.009). Familial ALS was more common in the young-onset group (8.4% vs. 3.8%, p < 0.001). Rare variants were identified in 20.0% of young-onset patients across 32 genes; pathogenic or likely pathogenic variants were predominantly in SOD1 and FUS. Compared with adult-onset patients, SOD1 was proportionally more common in adult-onset disease, whereas FUS variants were markedly enriched among young-onset cases, suggesting age-dependent differences in genetic architecture. Conclusion: Young-onset ALS in China is characterized by a slower clinical course and a distinct genetic profile dominated by SOD1 and FUS, with near-absent C9orf72 expansions. Routine genetic testing and age-stratified trial design are warranted in this population.
    Keywords:  Amyotrophic lateral sclerosis; China; clinical phenotype; genetic characteristics; young-onset
    DOI:  https://doi.org/10.1080/21678421.2026.2712723
  7. J Neurol Sci. 2026 Aug 10. pii: S0022-510X(26)00412-0. [Epub ahead of print]490 126130
      
    Keywords:  Amyotrophic lateral sclerosis; Anti-glycolipid antibody.; Cox proportional hazards model.; Respiratory function.
    DOI:  https://doi.org/10.1016/j.jns.2026.126130
  8. Neurodegener Dis Manag. 2026 Aug 14. 1-8
       AIMS: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. Understanding the underlying causes would help further studies on the pathogenesis and treatments. Recent interest has emerged in evaluating whether the COVID-19 pandemic and vaccination have any influence on the epidemiological patterns of ALS.
    MATERIALS & METHODS: To assess this association in Isfahan, Iran, during the post-COVID-19 era, we conducted this retrospective study. Newly diagnosed ALS cases were identified, and demographic data, environmental exposures, comorbidities, vaccination history, and other aspects were collected.
    RESULTS: A total of 63 patients were diagnosed with definite ALS, yielding an incidence rate of 0.74 per 100,000 person-years (95% CI: 0.57-0.94). The mean age was 59.7 ± 11.6 years, and cases were predominantly male (73%). Of the 63 new ALS-diagnosed cases, 45% of patients reported probable prior COVID-19 infection, and 95.3% mentioned at least one dose of COVID-19 vaccination. Bulbar signs, including facial muscle weakness, tongue atrophy, and fasciculation, were present in 46% of cases, and emotional lability and cognitive decline were observed in 20.6%.
    CONCLUSION: We showed a probable relation between COVID-19 infection and the epidemiology of ALS in post-COVID era. However, our results and symptom alterations require further investigation.
    Keywords:  Amyotrophic lateral sclerosis; COVID-19; Iran; epidemiology; vaccination
    DOI:  https://doi.org/10.1080/17582024.2026.2718409
  9. Neuroscience. 2026 Aug 14. pii: S0306-4522(26)00546-4. [Epub ahead of print]
      Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative disease for which effective disease-modifying therapies remain limited. This study aimed to derive internally recurrent ALS-associated transcriptional signatures and generate directionally interpretable drug-repositioning hypotheses using a consensus machine-learning framework. Two publicly available transcriptomic datasets from motor cortex (E-MTAB-2325) and blood (E-TABM-940) were analyzed using four feature-selection methods within 100 repetitions of 4-fold cross-validation. Probes recurrently selected in models achieving an accuracy of at least 0.90 were prioritized and examined using COGENA pathway enrichment and Connectivity Map drug-signature analysis. Fifteen qualifying models were obtained for the motor-cortex dataset and 55 for the blood dataset. No exact prioritized gene or probe identifier was shared between the two top-100 signatures, but pathway-level integration identified complementary evidence involving glial and immune regulation, proteostasis and vesicle trafficking, MAPK-related stress signaling, cytoskeletal and extracellular remodeling, and RNA-related processes. The motor-cortex dataset additionally emphasized astroglial support, glutamate handling, and inclusion-body regulation, whereas the blood dataset highlighted cytokine regulation and directionally heterogeneous immune, mitochondrial, and metabolic signals. Deferoxamine and disulfiram showed the clearest reversal-compatible profiles in motor cortex, whereas yohimbic acid and atovaquone showed reversal-compatible profiles in blood. Ciprofloxacin, prochlorperazine, and a compound group led by androsterone instead showed concordant connectivity. The results provide transparent, hypothesis-generating gene, pathway, and compound priorities, but they do not establish biomarkers, therapeutic efficacy, or clinical suitability and require validation in independent cohorts and experimental ALS models.
    Keywords:  Amyotrophic lateral sclerosis; Drug repurposing; Machine learning; Pathway analysis; Transcriptomic connectivity; Transcriptomics
    DOI:  https://doi.org/10.1016/j.neuroscience.2026.08.017
  10. Front Neurol. 2026 ;17 1928302
      Amyotrophic lateral sclerosis (ALS) is a complex and progressive neurodegenerative disorder characterized by the degeneration of both upper and lower motor neurons. Although most ALS cases occur sporadically, without a known family history of the disease, genetic factors play a major role in its pathogenesis through monogenic, oligogenic, or polygenic mechanisms. It is estimated that 10-15% of ALS cases occur in a familial setting; however, a specific monogenic cause cannot always be identified. Establishing the underlying genetic basis in both sporadic and familial ALS is essential, as it enables individualized and family genetic counseling, facilitates the early identification of at-risk or oligosymptomatic relatives, improves the prediction of gene-specific clinical trajectories, and, more recently, determines eligibility for gene-targeted therapies, such as tofersen for SOD1-associated ALS and ulefnersen, currently under clinical investigation, for FUS-associated ALS. Over the years, differing opinions have existed regarding the role of genetic testing in individuals diagnosed with ALS. However, accumulating clinical evidence has increasingly supported the timely and early implementation of genetic testing as part of the standard clinical management of patients with ALS. In this article, we present the perspective of leading Brazilian neurologists specializing in ALS care regarding the current role of genetic testing in clinical practice.
    Keywords:  amyotrophic lateral sclerosis; genetic testing; genetics; motor neuron disease; next-generation sequencing; whole exome sequencing
    DOI:  https://doi.org/10.3389/fneur.2026.1928302
  11. Int Rev Neurobiol. 2026 ;pii: S0074-7742(26)00044-9. [Epub ahead of print]188 199-229
      The human gut microbiota represents a complex ecosystem of trillions of microorganisms with profound implications for neurological health. Emerging evidence demonstrates that dysbiosis, an imbalance in microbial composition and function, plays a crucial role in the pathogenesis of neurodegenerative diseases and age-related cognitive decline. This chapter summarizes current knowledge of the microbiota-gut-brain axis (MGBA) and elucidates how intestinal microbes and their metabolites communicate with the central nervous system via neural, immune, endocrine, and metabolic pathways. We examine the mechanistic links between gut dysbiosis and specific neurodegenerative conditions, including Alzheimer's disease (AD), Parkinson's disease (PD), Amyotrophic lateral sclerosis (ALS), Huntington's disease (HD), and Multiple sclerosis (MS). Furthermore, we explore age-related changes in the microbiota and their contributions to neuroinflammation, immunosenescence, and cognitive decline. Finally, we evaluate therapeutic interventions targeting the microbiota, including probiotics, prebiotics, synbiotics, and dietary modulation as promising strategies to prevent and ameliorate neurodegenerative pathology. The chapter provides a comprehensive summary of how microbiota-targeted approaches may delay ageing and neurodegeneration.
    Keywords:  Alzheimer’s disease; Dysbiosis; Gut-brain axis; Huntington’s disease; Multiple sclerosis; Neurodegeneration; Parkinson’s disease
    DOI:  https://doi.org/10.1016/bs.irn.2026.05.015
  12. Brain Commun. 2026 ;8(4): fcag292
      Transsynaptic deficits arising from an imbalance in excitatory/inhibitory inter-neuronal circuitry have been extensively shown to underlie the phenomena of altered cortical motor excitability in patients with amyotrophic lateral sclerosis (ALS), with glutamate-induced excitotoxicity believed to represent a primary mechanism of ALS pathogenesis. In vivo evidence of glutamate abnormality in ALS patients, however, remains inconsistent, likely reflecting heterogeneity in the severity of underlying cortical dysfunction. The current study assessed the utility of short interval intracortical inhibition (SICI), a validated marker of upper motor neuron (UMN) dysfunction in ALS, to stratify cortical motor metabolite abnormalities, as determined by proton magnetic resonance spectroscopy (1H-MRS). Serial 1H-MRS data were acquired over 2.5 years for two ALS participants with contrasting profiles of progressive motor dysfunction as a pilot study. Longitudinal monitoring of these participants demonstrated stable cortical motor metabolite concentrations in the participant with lower motor predominant disease presentation but progressive changes in glutamate-glutamine (Glx) and N-acetylaspartate (NAA) concentrations in the participant with a classical ALS presentation. Fifty-four participants (34 ALS; 20 control) were prospectively recruited for a formal study. All patients underwent threshold-tracking transcranial magnetic stimulation) and were classified as having high (>5.5%; H-SICI) or low (≤5.5%; L-SICI) cortical motor inhibition. Matching 3T single-voxel 1H-MRS data were acquired from the hand region of the motor cortex for all participants at baseline, with a subset of patients (n = 10) longitudinally assessed at 6 months. Dissociable patterns of pathological change in NAA and Glx/NAA metabolites were observed at baseline and longitudinally in ALS. At baseline, L-SICI ALS participants with increased cortical motor excitability demonstrated a significant bilateral reduction in NAA and elevated Glx/NAA metabolite concentrations (P-values < 0.03), contrasting to H-SICI ALS participants, where the neurochemical concentration was preserved. At follow-up, H-SICI patients demonstrated a trend towards elevated Glx and Glx/NAA in the left motor cortex (P-values ≤ 0.06). In contrast, L-SICI patients demonstrated stable concentrations of Glx but further reductions in NAA ratio (P = 0.04). Cortical excitability and brain neurochemical profile abnormalities reflect evolving states of UMN dysfunction in ALS. Elevated Glx/NAA metabolite concentration underlies greater cortical motor dysfunction in ALS. Longitudinal 1H-MRS holds potential prognostic utility for clinical monitoring of ALS disease trajectory.
    Keywords:  amyotrophic lateral sclerosis; cortical excitability; magnetic resonance spectroscopy; motor neuron disease; threshold-tracking TMS
    DOI:  https://doi.org/10.1093/braincomms/fcag292
  13. Int Rev Neurobiol. 2026 ;pii: S0074-7742(26)00043-7. [Epub ahead of print]188 113-143
      Progressive neuronal loss is a hallmark of neurodegenerative diseases like Huntingtons disease (HD) and Amyotrophic lateral sclerosis (ALS) which are caused by convergent mechanisms such as oxidative stress, mitochondrial dysfunction, neuroinflammation, impaired autophagy and dysregulated cell death pathways. Both conditions share significant disruptions in metabolic and inflammatory signalling despite having different genetic origins and clinical manifestations; underscoring the necessity of pathway-oriented treatment approaches. In the central nervous system, peroxisome proliferator-activated receptor-γ (PPAR-γ), a ligand-activated nuclear receptor has become an important regulator of inflammation, redox homeostasis, mitochondrial biogenesis and cellular stress responses. After giving a thorough overview of PPAR-γ structure activation and transcriptional regulation and the PGC-1α-mediated mitochondrial biogenesis axis, this chapter delves deeply into its interactions with major signalling pathways such as NF-κB, Wnt/β-catenin Nrf2/ARE and the autophagy-apoptosis networks. With a focus on experimental data showing PPAR-γ signaling's neuroprotective, anti-inflammatory, antioxidant and metabolic regulatory roles the pathophysiology of ALS and HD is critically investigated. Lastly the need for improved biomarkers, tailored multi-target strategies and selective modulators is highlighted in the discussion of current therapeutic limitations and translational difficulties.
    Keywords:  Autophagy; Mitochondrial dysfunction; Motor neurons; NF-κB; PGC-1α; PPAR-γ
    DOI:  https://doi.org/10.1016/bs.irn.2026.05.014
  14. Muscle Nerve. 2026 Aug 08.
       INTRODUCTION/AIMS: Various signs of selective muscle involvement have been reported in amyotrophic lateral sclerosis (ALS) but such studies for the lower limbs are scarce. We formed a preliminary impression that hip abductors (Ab) are often preserved in ALS. We named this phenomenon "abductor sparing", and this study aimed to verify our findings.
    METHODS: Patients with a confirmed diagnosis of ALS (ALS group) and patients with pyramidal weakness other than ALS (pyramidal group) were retrospectively identified. Medical Research Council (MRC) scores of 10 muscle groups in the lower limbs were evaluated. The proportion of patients with weakness (MRC score 4 or less) was compared between different groups.
    RESULTS: We enrolled 61 patients in the ALS group and 27 patients in the pyramidal group. The most frequently weak muscle groups in both groups were big toe extensors and hip flexors. Ab was the third (70%) in the pyramidal group, whereas it was weak only in 30% of patients with ALS. This held true also for patients with ALS with shorter duration or less severity. "The lower limb flexor pattern", i.e., flexor muscles being weaker than extensor muscles, was observed both in ALS and pyramidal groups.
    DISCUSSION: Patients with ALS generally showed similar muscle weakness patterns to those with pyramidal syndrome, except for abductor sparing. The reason for the latter phenomenon is unclear. Abductor sparing may be useful for early diagnosis of ALS, although larger studies with blinded evaluators are needed to confirm these findings.
    Keywords:  amyotrophic lateral sclerosis; hip abductors; pyramidal weakness; selectivity; split phenomena
    DOI:  https://doi.org/10.1002/mus.70374
  15. Neurobiol Dis. 2026 Aug 14. pii: S0969-9961(26)00319-0. [Epub ahead of print] 107574
      Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the progressive loss of motor neurons, with most cases lacking a clear genetic basis. Emerging evidence highlights the involvement of non-coding RNAs, particularly circular RNAs (circRNAs), in disease onset and progression. Here, we investigated circRNAs implicated in ALS and related motor neuron diseases (MNDs). Here we provide a general overview of circular RNA metabolism and cellular functions. We then present our systematic literature review that identified ALS-associated circRNAs, followed by in silico analyses of 15 circular RNA candidates that were selected based on most compelling data regarding ALS. Our results revealed that several circular RNAs regulate ALS-related genes, such as unfolded protein response, oxidative stress, cell cycle regulation, and apoptosis. Protein-RNA interaction analysis further showed that ALS-related circRNAs can sponge 20 RNA-binding proteins. Additionally, molecular docking analysis demonstrated that ALS-associated FUS variants significantly alter its binding affinity to circular RNAs. RNA-seq data from ALS patients confirmed significant alterations in the expression of host genes of ALS-related circRNAs and hub proteins in ALS-affected CNS tissues. Collectively, our findings identify circRNAs as potential key contributors to ALS pathogenesis.
    Keywords:  Amyotrophic lateral sclerosis (ALS); Circular RNAs (circRNAs); FUS; miRNA sponging
    DOI:  https://doi.org/10.1016/j.nbd.2026.107574
  16. Cell Mol Biol Lett. 2026 Jul 25. pii: 130. [Epub ahead of print]31(1):
      The adenosine deaminases acting on RNA (ADAR) family of enzymes (ADAR1 and ADAR2) catalyze adenosine-to-inosine (A-to-I) RNA editing. This post-transcriptional change is remarkably prevalent in the central nervous system (CNS). ADAR-mediated editing is critical for proper brain development, synaptic plasticity, and immunological homeostasis in the central nervous system (CNS) via recoding neurotransmitter receptors and ion channels. Conversely, a wide range of CNS disorders, such as neurodegenerative diseases (Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis), neuropsychiatric conditions (schizophrenia, bipolar disorder, and major depression), cerebrovascular diseases, and gliomas, are now linked to dysregulation of ADAR activity, whether through loss-of-function mutations, altered expression, or mislocalization. To address the main question of whether altered RNA editing is a fundamental driver of pathogenesis, a compensatory response, or a context-dependent modulator, this review critically synthesizes existing evidence. The basic processes of ADAR enzymes and their regulation throughout neurodevelopment are first described. Next, we thoroughly assess the unique molecular fingerprints of ADAR dysregulation across several CNS disorders, emphasizing recurring themes such as Alu RNA hypo-editing, induction of innate immunity, and GRIA2 editing, which can cause excitotoxicity. Lastly, we examine new treatment approaches that use or reinstate ADAR activity, such as small-molecule modulators and site-directed RNA editing tools (leveraging endogenous ADAR for programmable editing of RNA [LEAPER], clustered ADAR-recruiting guide RNAs (gRNAs) for effective RNA editing [CLUSTER], and mimicking inverted repeats to recruit ADARs using engineered oligoribonucleotides [MIRROR]). We summarize by reviewing key obstacles to clinical translation, including crossing the blood-brain barrier, the risks of off-target editing, and the challenges of achieving spatiotemporal accuracy. We also list important open topics for further investigation.
    Keywords:  ADAR enzymes; Central nervous system; Neurodegeneration; RNA editing; Therapeutic targets
    DOI:  https://doi.org/10.1186/s11658-026-00995-9
  17. Brain Commun. 2026 ;8(4): fcag289
      Neuroinflammation is increasingly recognized as a key pathological process in neurodegenerative disease and can be monitored using biofluid biomarkers. Objective biomarkers may aid diagnosis, prognosis and progression. We conducted a scoping review of neuroinflammation biomarkers across major neurodegenerative diseases covering the past 23 years, including Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, frontotemporal dementia, Huntington's disease, Lewy body dementia, multiple system atrophy and progressive supranuclear palsy. PubMed and Web of Science were systematically searched for observational studies from 2003 to 2025 reporting neuroinflammation biomarkers in adult human subjects. Included markers encompassed blood, cerebrospinal fluid, saliva and urine, providing possible complementary information. Original studies on non-neuroinflammatory mechanisms, cellular or post-mortem biomarkers, animal models, genetics and comparisons between diseases were excluded. Two reviewers independently screened articles; biomarkers reported in ≥3 independent cohorts per disease were analysed. A total of 388 studies were included, predominantly in Alzheimer's disease/mild cognitive impairment (n = 214) and Parkinson's disease (n = 92). Eight biomarkers were most frequently reported: IL-6, TNF-α, IL-1β, CRP/hs-CRP, IL-10, MCP-1, YKL-40 and neutrophil-to-lymphocyte ratio (NLR), measured in blood or cerebrospinal fluid (CSF) as indicators of inflammatory processes associated with neurodegeneration. Across biomarkers, the strength and scope of evidence varied. Most studies demonstrated higher biomarker levels in disease, with more advanced stages, greater clinical severity and faster progression. NLR showed the most consistent pattern across staging, severity and progression, but is currently under-represented across diseases. CSF YKL-40 generally increased with disease presence and advancement; IL-6 showed consistent increases in advanced stages and with severity, although significant results were limited; MCP-1, CRP and TNF-α were mostly linked to severity and progression; IL-1β and IL-10 remained largely inconsistent. Other markers, including GFAP, showed associations in Alzheimer's disease but remain underexplored in other neurodegenerative diseases. Variability across studies, including differences in biofluid source, assay sensitivity, population characteristics and statistical approaches, limits interpretability and comparability. Although neuroinflammation is elevated in neurodegenerative diseases and generally intensifies as these diseases progress, potentially contributing to downstream pathology, the precise timing, role and predictive value of these biomarkers remain uncertain. A subset of markers, including NLR, YKL-40 and GFAP, shows relatively consistent associations and may warrant further investigation across diseases. In clinical practice, neuroinflammation biomarkers could serve as complementary tools to capture inflammatory processes related to disease heterogeneity and progression. Future longitudinal studies tracking pre-symptomatic and early-stage individuals, with standardized approaches, are needed to define temporal dynamics and explore their utility for monitoring disease progression and therapeutic response.
    Keywords:  clinical stratification; inflammation markers; neurodegenerative diseases; prognostic indicators
    DOI:  https://doi.org/10.1093/braincomms/fcag289
  18. J Neurol Neurosurg Psychiatry. 2026 Aug 13. pii: jnnp-2026-339165. [Epub ahead of print]
       BACKGROUND: The role of physical activity in the risk of amyotrophic lateral sclerosis (ALS) is debated. It is also unclear whether the association differs in people at high genetic risk of ALS.
    METHODS: The strength and shape of the association between self-reported and device-measured physical activity and incident diagnosis of ALS in the UK Biobank cohort was analysed using Cox regression, adjusting for potential confounders. Cubic splines were used to assess non-linearity. Analyses were performed in the entire cohort and restricted to those with increased genetic risk due to C9ORF72 expansion carriage or C-allele homozygosity at rs12608932 in UNC13A.
    RESULTS: Among 384 836 participants with valid questionnaire data, the median age at recruitment was 57.0 years (IQR 50.0-63.0) and median follow-up was for 14.0 years (IQR 13.3-14.6), with 541 incident diagnoses of ALS. Higher self-reported physical activity was associated with a lower risk of ALS (HRhigh vs low=0.77, 95% CI 0.61 to 0.96). The relationship was non-linear, with lowest risk in those in the mid-range self-reported activity. Higher overall device-measured activity was also associated with a lower risk of ALS (HRper 1SD = 0.75, 95% CI 0.58 to 0.97, n=96 570, 98 ALS events) but with a linear dose-response relationship. The association of physical activity with ALS was similar in individuals with C-allele homozygosity at rs12608932 in UNC13A and directionally consistent but not statistically significant in C9ORF72-HRE carriers (n=535, 56 ALS events).
    CONCLUSION: Higher self-reported and device-measured overall physical activity were associated with a lower risk of ALS overall, but with a potentially non-linear dose-response relationship.
    Keywords:  C9ORF; EPIDEMIOLOGY; GENETICS; MOTOR NEURON DISEASE; NEUROGENETICS
    DOI:  https://doi.org/10.1136/jnnp-2026-339165
  19. Muscle Nerve. 2026 Aug 14.
       INTRODUCTION/AIMS: Percutaneous endoscopic gastrostomy (PEG) is widely used to manage dysphagia in patients with amyotrophic lateral sclerosis (ALS). However, some patients experience rapid clinical deterioration following the procedure. Prognostic factors specific to outcomes following PEG remain insufficiently defined.
    METHODS: This two-center retrospective cohort study included 117 patients with ALS who underwent PEG prior to tracheostomy between April 2011 and June 2023. Cox proportional hazards modeling was used to identify independent prognostic factors following PEG. Explanatory variables included age, sex, onset site, percent of normal forced vital capacity (%FVC), disease duration from onset to PEG, and body mass index. Optimal cutoff values for continuous variables were determined using time-dependent receiver operating characteristic analyses.
    RESULTS: Among six examined clinical variables, four were independently associated with worse outcomes after PEG placement as follows: male sex, spinal onset, lower %FVC at the time of PEG, and shorter duration from onset to PEG. Cutoff values were determined as %FVC < 63% and disease duration < 12 months. Log-rank analyses confirmed significantly shorter post-PEG survival in patients meeting these criteria.
    DISCUSSION: Poorer respiratory function and shorter duration from disease onset to PEG were strongly associated with worse prognosis after PEG. Male sex emerged as an independent prognostic factor, suggesting potential biological differences in disease progression after gastrostomy. These findings underscore the importance of comprehensive clinical evaluation when considering PEG in patients with ALS.
    Keywords:  amyotrophic lateral sclerosis; forced vital capacity; gastrostomy; percutaneous endoscopic gastrostomy; prognosis
    DOI:  https://doi.org/10.1002/mus.70378
  20. Amyotroph Lateral Scler Frontotemporal Degener. 2026 Aug 13. 1-10
       BACKGROUND: The EuroQol 5-Dimension 5-Level questionnaire (EQ-5D-5L) is widely used in health outcomes research, but its longitudinal performance in amyotrophic lateral sclerosis (ALS), particularly across international cohorts, remains poorly characterized. This study examined whether the EQ-5D-5L captures clinically meaningful change over time in ALS and how national value sets influence interpretation of that change.
    METHODS: EQ-5D-5L data from 296 patients across six European ALS centers in five countries were analyzed over 18.6 months (IQR 17.9-20.8). Baseline and follow-up assessments were compared using the Paretian Classification of Health Change and Health Profile Grids. Country-specific tariffs were applied to identical health-state transitions. Associations between EQ-5D measures and King's stage were assessed.
    RESULTS: Overall health states worsened over time, although mixed change remained common (31.0%-39.0%), reflecting simultaneous improvement and deterioration across dimensions. Pain/discomfort and anxiety/depression were the only domains showing notable improvement at later follow-up. Mean health-state ranks worsened from 619.65 at baseline to 857.20 at follow-up. However, the apparent magnitude of progression differed substantially according to national tariff selection, with pooled mean utility change ranging from -0.081 under the Dutch tariff to -0.112 under the Italian tariff. Both EQ-5D index and visual analog scale scores correlated with progression according to the King's staging system.
    CONCLUSIONS: The EQ-5D-5L captures plausible longitudinal deterioration in ALS, but interpretation is strongly influenced by valuation context. National tariffs may materially alter the apparent size of quality-of-life change in multinational ALS studies.
    Keywords:  EQ-5D-5L; QoL; Quality of life
    DOI:  https://doi.org/10.1080/21678421.2026.2715921
  21. Neurogenetics. 2026 Aug 10. pii: 55. [Epub ahead of print]27(1):
      We analyzed the clinical features of a patient with amyotrophic lateral sclerosis (ALS) carrying a novel variant in the sequestosome 1 (SQSTM1) gene and explored the genotype-phenotype association of SQSTM1 gene variants in combination with previous literature. Clinical data and genetic testing results of an ALS patient treated at our hospital were collected. Whole-exome sequencing was used to screen for ALS-related genes, and candidate variants were validated by Sanger sequencing and family analysis. A systematic search was conducted in the PubMed database using the keywords ("amyotrophic lateral sclerosis") OR ("motor neuron disease") AND ("SQSTM1") to summarize the clinical and genetic characteristics of previously reported ALS patients with SQSTM1 variants. The patient was a 49-year-old male with progressive weakness in both lower limbs for one year and weakness in the left upper limb for the past three months. Electromyography showed extensive neurogenic damage. Genetic testing identified a novel heterozygous missense variant, c.355 C > T (p.Arg119Cys), in the SQSTM1 gene. Family verification revealed that his phenotypically normal mother carried the same variant. The literature search identified 58 cases of ALS associated with SQSTM1 variants. Missense variants were the most common type. We identified a novel SQSTM1 variant, c.355 C > T (p.Arg119Cys), in a ALS patient. Although this finding expands the variant spectrum, its pathogenicity remains uncertain and requires further functional validation and pedigree confirmation. Our literature review further shows that SQSTM1-associated ALS predominantly presents with limb onset, with a subset of patients exhibiting frontotemporal dementia or Paget's disease.
    Keywords:  Amyotrophic lateral sclerosis; Gene; SQSTM1; Variant
    DOI:  https://doi.org/10.1007/s10048-026-00924-0
  22. Exp Anim. 2026 Aug 08.
      Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of upper and lower motor neurons, resulting in progressive paralysis and death within a few years of symptom onset. Although current treatments modestly slow the disease progression, effective disease-modifying and curative therapies remain an urgent unmet need. SOD1 mutations are one of the major genetic causes of familial ALS. The p.Leu127Ser (L126S) and p.Gly94Ser (G93S) variants are clinically relevant pathogenic variants for which appropriate animal models are needed for preclinical evaluation of gene-editing therapies. However, most existing SOD1 models rely on high copy overexpression of mutant SOD1. Therefore, animal models carrying a single copy mutant human SOD1 allele are required for evaluating the in vivo efficacy of genome editing therapies. Here, we used CRISPR/Cas9-mediated homology-directed repair to generate a knock-in mouse line at the Gt(ROSA)26Sor (Rosa26) locus carrying a single-copy, 11-kb human SOD1 genomic fragment, including all exons and introns, with the L126S mutation. The Rosa26-hSOD1L126S mice did not develop ALS-like phenotypes during the limited observation period. However, they faithfully retained a single-copy mutant human SOD1 genomic allele, providing a valuable preclinical platform for evaluating genome-editing therapies. We also generated Rosa26-hSOD1G93S mice carrying the SOD1 G93S mutation with comparable efficiency. Together, these mutant human SOD1 knock-in mouse lines provide a versatile and clinically relevant platform for the preclinical evaluation of genome-editing therapies targeting heterozygous SOD1 mutations.
    Keywords:  CRISPR/Cas9; Rosa26 locus; SOD1; amyotrophic lateral sclerosis (ALS); knock-in mice
    DOI:  https://doi.org/10.1538/expanim.26-0040
  23. Clin Lab. 2026 Aug 01. 72(8):
       BACKGROUND: Glycometabolism has been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), yet the precise molecular mechanisms underlying this association remain poorly understood. The identification of reliable biomarkers for ALS diagnosis represents a critical unmet need in clinical practice, as early detection and intervention could significantly improve patient outcomes.
    METHODS: We employed a comprehensive analytical approach combining two-sample Mendelian randomization analysis to investigate the causal relationship between blood glucose levels and ALS. Additionally, we integrated differential expression analysis, multiple machine learning algorithms, and correlation analyses to identify potential diagnostic biomarkers for ALS. The machine learning framework utilized gradient boosting tree methodology to construct predictive models, with performance evaluation conducted through cross-validation procedures.
    RESULTS: Mendelian randomization analysis demonstrated a significant negative causal relationship between blood glucose levels and ALS risk. Through bioinformatic analysis and machine learning approaches, we successfully identified candidate genes and constructed a high-performance predictive model using gradient boosting tree methodology, achieving an average area under the curve (AUC) of 0.8782 in cross-validation. Validation studies utilizing both bulk and single-cell RNA sequencing datasets revealed that COL5A1 and VCAN genes play significant roles in ALS pathogenesis, likely through their involvement in glycolytic pathways.
    CONCLUSIONS: Our findings provide novel insights into the molecular mechanisms linking glycometabolism and ALS, while identifying potential diagnostic biomarkers for the disease. The identified genes, COL5A1 and VCAN, represent promising targets for further investigation in ALS pathogenesis. However, the clinical translation of these findings requires validation through additional datasets and prospective clinical trials to establish their diagnostic utility and therapeutic potential.
    DOI:  https://doi.org/10.7754/Clin.Lab.2025.250766
  24. N Z Med J. 2026 Aug 14. 139(1640): 23-30
       AIM: This retrospective cohort study assessed adherence to the Motor Neurone Disease New Zealand best practice guidelines and Pharmac Special Authority criteria for riluzole in a Canterbury-based amyotrophic lateral sclerosis (ALS) cohort. Secondary objectives included reasons for not prescribing, side effects and treatment initiation relative to diagnosis.
    METHOD: A retrospective cohort study was conducted using the Christchurch Hospital respiratory department's ALS database. Patients diagnosed between January 2020 and November 2024 were included. Electronic health records and Special Authority records were reviewed. Patients with incomplete data or non-motor neurone disease (MND) diagnoses were excluded.
    RESULTS: Of 115 patients, 69 (60%) were prescribed riluzole. Less than 45% of patients had baseline blood tests, and pre-treatment spirometry was completed in 70% of patients. Delays in prescribing improved rates of baseline spirometry, but not blood test completion. Ongoing monitoring was poor, with less than 60% of patients completing recommended tests across all time points. Eight patients (11.6%) reported side effects, and three discontinued treatment following alanine aminotransferase derangement.
    CONCLUSION: Adherence to recommended monitoring and Special Authority criteria for riluzole was inconsistent in this cohort. In the context of emerging evidence supporting broader survival benefit and reduced drug cost, further evaluation of current Special Authority prescribing criteria may be warranted.
    DOI:  https://doi.org/10.26635/6965.7367
  25. Brain Commun. 2026 ;8(4): fcag296
      Growing evidence suggests that microplastics, particularly nanoplastics, may be neurotoxic. However, there are few studies of neurologic diseases, especially amyotrophic lateral sclerosis (ALS). In a hospital-based case-control study, we measured in vivo concentrations of nano- and microplastics (size 0.1-10 µm) in serum and CSF among 24 newly diagnosed cases of ALS and 20 controls. Adjusting for sex and age, we found a strong positive association between serum and CSF microplastic concentrations and higher microplastic concentrations in the CSF and serum of ALS cases compared with controls. In spline regression analyses, CSF microplastic concentrations showed a positive monotonic association with odds of ALS. Serum microplastic concentrations also showed a positive association with ALS, but only above a certain threshold. Among ALS cases, serum-but not CSF-microplastic concentrations were positively associated with neurofilament light chain, a biomarker of neuroaxonal damage. Given the case-control design, we cannot rule out reverse causation (i.e. that ALS-related factors caused greater bioaccumulation of microplastics) or the possibility that the association reflects changes in lifestyle or other chemical exposures. However, the observed pattern raises the possibility of an aetiologic role of nano- and microplastics in motor neuron degeneration and indicates higher CNS concentrations of these chemicals in ALS cases.
    Keywords:  amyotrophic lateral sclerosis; microplastics; nanoplastics
    DOI:  https://doi.org/10.1093/braincomms/fcag296
  26. Geroscience. 2026 Aug 12.
      The blood-cerebrospinal fluid barrier (BCB) maintains central nervous system homeostasis. Its dysfunction, reflected by an increased cerebrospinal fluid/plasma albumin ratio (Q-Alb), has been reported in several neurodegenerative diseases. However, the diagnostic utility of Q-Alb in dementia remains uncertain. This review aimed to systematically evaluate Q-Alb as a biomarker in dementia by examining inter-group differences, diagnostic performance, and associations with other biomarkers. To address this questions, PubMed was searched for observational and longitudinal studies reporting Q-Alb in patients with dementia and healthy controls (HC). Data on Q-Alb levels, diagnostic accuracy, and biomarker associations were extracted. Meta-analyses were performed for Alzheimer's disease (AD) and vascular dementia (VaD). The search identified forty-three studies, spanning AD, VaD, Parkinson's disease (PD), dementia with Lewy bodies (DLB), and frontotemporal dementia (FTD). Q-Alb was significantly higher in VaD compared with HC (pooled standardized mean difference 0.69, 95% CI: 0.53-0.86) and moderately increased in AD compared with HC (0.25, 95% CI: 0.14-0.36). Only two studies directly investigated the diagnostic accuracy. Q-Alb correlated positively with IgG index, neurofilament light chain, and vascular and inflammatory markers. Taken together, these findings suggest that Q-Alb is not a reliable standalone diagnostic biomarker, particularly for AD, but is consistently elevated in VaD and disorders with subcortical or vascular pathology. Findings support its role as a supportive marker of blood-cerebrospinal fluid barrier dysfunction. Further large, multimodal studies integrating vascular imaging are warranted to clarify its diagnostic and prognostic utility.
    Keywords:  Albumin; Alzheimer’s disease; Biomarker; Blood-brain barrier; Blood-cerebrospinal fluid barrier; Vascular dementia
    DOI:  https://doi.org/10.1007/s11357-026-02463-w
  27. Cell. 2026 Aug 04. pii: S0092-8674(26)00806-8. [Epub ahead of print]
      Cognitive manifestations, including impairments in language and executive functions, are seen in amyotrophic lateral sclerosis (ALS), but the underlying mechanisms remain unclear. We mapped prefrontal cortex regions from ALS patients by integrating spatial and single-nucleus transcriptomics in a cognitively stratified patient cohort. We uncover that cognitive impairment in ALS is associated with distinct patterns of neuronal dysfunction and glial-vascular dysregulation that vary by region and cognitive subtype. Executive dysfunction is linked to reduced mitochondrial and synaptic activity in deep-layer dorsolateral prefrontal cortex neurons, whereas language-related deficits track with a diffuse pan-regional response involving glial and vascular abnormalities. Our analyses, validated by multiplexed imaging, further identify signatures in the prefrontal cortex that span both motor and cognitive phenotypes, including a multicellular gliosis response. The findings reveal that clinical heterogeneity in ALS is driven by phenotype-specific cellular interactions in motor and non-motor regions of the brain.
    Keywords:  ALS; ALS-FTD; ALS-FTSD; cognitive heterogeneity; cognitive impairment in ALS; executive function; language; multimodal analysis; spatial biology; verbal fluency
    DOI:  https://doi.org/10.1016/j.cell.2026.07.008
  28. J Neuroimmunol. 2026 Jul 30. pii: S0165-5728(26)00198-0. [Epub ahead of print]420 579049
      Neurodegenerative diseases are increasingly recognized as disorders involving immune dysregulation. However, the mechanisms underlying this dysfunction remain poorly characterized. Trained immunity has recently emerged as a potential contributor to immune dysregulation, particularly in neuroinflammation and neurodegenerative diseases, where trained immunity is the epigenetic reprogramming of innate immune responses following an initial inflammatory stimulus, which increases responses to subsequent exposures. In parallel, although the brain has traditionally been viewed as an immune-privileged organ, growing evidence indicates that peripheral immune activity exerts significant influence on neuroinflammation in the brain. A major driver of peripheral immunity is the microbiome. Therefore, this perspective aims to present a conceptual framework for a relationship between the microbiome, trained immunity, and neurodegenerative diseases. We first summarize evidence of trained immunity in the brain and its role in neurodegeneration. Next, we highlight the role of the microbiome in peripheral immune modulation and in trained immunity. Finally, we propose potential mechanisms through which the microbiome may induce or modulate trained immunity in the brain. These include: 1) immunogenic microbial metabolites that cross the blood-brain barrier and alter host cell epigenetics; 2) migration of peripherally trained myeloid cells into the brain; 3) viral infection-induced trained immunity that may predispose to neurodegeneration. Together, this perspective suggests that microbiome-induced trained immunity offers a novel mechanism linking peripheral immune regulation with neuroinflammation and neurodegeneration with implications for therapeutic targeting of epigenetic modification as a molecular prevention strategy for progression of neurodegeneration.
    Keywords:  Inflammatory memory; Metabolites; Microbiome; Neurodegenerative disease; Trained immunity; Virome
    DOI:  https://doi.org/10.1016/j.jneuroim.2026.579049
  29. Front Neurosci. 2026 ;20 1899073
       Objective: To investigate white matter microstructural alterations in amyotrophic lateral sclerosis (ALS) using free-water-corrected diffusion tensor imaging (FW-DTI), compare its findings with those of conventional DTI, and examine the clinical correlations and preliminary diagnostic value of these metrics.
    Methods: 44 ALS patients and 42 healthy controls underwent multi-b-value diffusion MRI. Conventional DTI metrics (fractional anisotropy [FA], mean diffusivity [MD], axial diffusivity [AxD], radial diffusivity [RD]), free-water-corrected metrics (FW-FA, FW-MD, FW-AxD, FW-RD), and the free-water fraction (FWF) were calculated. Tract-based spatial statistics (TBSS) was used for voxelwise group comparisons. Correlations between clinical parameters, including disease progression rate (ΔFS) and the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) score, and DTI metrics were examined. A diagnostic nomogram was constructed using logistic regression based on imaging markers that showed significant differences between groups.
    Results: Conventional DTI identified white matter abnormalities in ALS-related regions, including corticospinal tract-related regions, the corpus callosum, and the cingulate gyrus. FW-DTI showed additional and partially distinct alterations, including changes in the fornix, bilateral superior corona radiata, anterior and posterior corona radiata, and the posterior limb of the internal capsule. The free-water fraction did not differ between groups. Correlation analysis revealed that ΔFS was negatively associated with FA in the left posterior limb of the internal capsule (r = -0.432), and the ALSFRS-R score was positively associated with FW-FA in the right anterior corona radiata (r = 0.389). A diagnostic nomogram combining FA in the right cerebral peduncle and FW-FA in the right anterior corona radiata showed preliminary discriminative performance (area under the curve [AUC] = 0.860).
    Conclusion: FW-DTI may provide complementary model-derived information for characterizing ALS-related white matter alterations beyond conventional DTI. Specific regional metrics were associated with ΔFS and the ALSFRS-R score, and the preliminary diagnostic nomogram yielded an AUC of 0.860.
    Keywords:  ALSFRS-R; FW-DTI; MRI; TBSS; amyotrophic lateral sclerosis
    DOI:  https://doi.org/10.3389/fnins.2026.1899073
  30. Molecules. 2026 Jul 28. pii: 2622. [Epub ahead of print]31(15):
      Alzheimer's disease (AD) is a neurodegenerative disorder characterized by Aβ deposition, tau hyperphosphorylation, and neuroinflammation. No effective drugs can slow disease progression. Polysaccharides from traditional Chinese medicine (TCM) exhibit neuroprotective activities (e.g., antioxidant, anti-inflammatory) with good safety. However, their clinical application is limited by low oral bioavailability, poor blood-brain barrier (BBB) permeability, and a pharmacokinetic-pharmacodynamic paradox. The emerging role of the microbiota-gut-brain axis in AD offers a strategy to overcome this paradox. This review summarizes the structural features and classification of TCM polysaccharides (from plants, fungi, and roots/rhizomes) and highlights their anti-AD mechanisms via the gut-brain axis. Acting as prebiotics, these polysaccharides escape upper digestion and are fermented by gut microbiota into short-chain fatty acids (SCFAs) and other metabolites, which enter circulation, cross the BBB, and alleviate AD pathology through metabolic, immune, and neuronal pathways. Outcomes include reduced Aβ deposition and tau phosphorylation, suppressed neuroinflammation, restored synaptic function, and improved cognition. This review provides a theoretical framework for TCM polysaccharide intervention in AD via the gut-brain axis and a pharmacological basis for developing natural product-based AD therapies.
    Keywords:  Alzheimer’s disease (AD); neuroinflammation; pharmacokinetic-pharmacodynamic (PK-PD) paradox; short-chain-fatty acids (SCFAs); traditional Chinese medicine (TCM) polysaccharides
    DOI:  https://doi.org/10.3390/molecules31152622
  31. Amyotroph Lateral Scler Frontotemporal Degener. 2026 Aug 12. 1-10
    Project MinE ALS Sequencing Consortium Project MinE ALS Sequencing ConsortiumPhilip van Damme, Philippe Corcia, Philippe Couratier, Patrick Vourc’h, Orla Hardiman, Russell McLaughin, Marc Gotkine, Yossef Lerner, Yehuda Shovman, Vivian Drory, Nicola Ticozzi, Vincenzo Silani, Jan H. Veldink, Leonard H. van den Berg, Mamede de Carvalho, Teresa Salas, Jesus S. Mora Pardina, Monica Povedano, Peter Andersen, Markus Weber, Nazli A. Başak, Ammar Al-Chalabi, Chris Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass & Clifton L. Dalgard
      ALS is genetically heterogeneous, with many causal genes identified through family-based gene-discovery studies. To evaluate this progress, we systematically reviewed these studies and identified unresolved genomic regions across five pedigrees. Reexamination resolved two pedigrees, nominating FUS and SYNE1 as the causal genes. The remaining three pedigrees exhibited linkage to four unresolved regions, which we reanalyzed using large-scale genetic datasets. We found no convincing evidence for new ALS-causing variants in these regions. These unresolved regions originated from complex pedigrees-consanguineous, isolated, or containing only a few affected individuals-whereas successful linkage was observed in larger, multigenerational families with ALS. Our findings confirm that family-based methods are robust in typical ALS pedigrees but lack power in small pedigrees with few affected individuals or in phenotypically heterogeneous families. Given these challenges and the rare-variant architecture of ALS, we propose a 'super-pedigree' framework to identify extended families with ALS to discover shared genetic risk factors and help develop gene-based therapies.
    Keywords:  Amyotrophic lateral sclerosis; genetic linkage; next-generation sequencing; rare variant analysis; super-pedigree approach; unresolved genomic regions
    DOI:  https://doi.org/10.1080/21678421.2026.2713969
  32. J Pain Symptom Manage. 2026 Aug 12. pii: S0885-3924(26)00925-5. [Epub ahead of print]
       BACKGROUND: . In recent decades, autonomy and self-determination in Amyotrophic Lateral Sclerosis (ALS), have gained increasing attention, and Advance Care Planning (ACP) has been incorporated into ALS guidelines. In Italy, Law 219 emphasizes the role of ACP in respecting patients' healthcare preferences. However, longitudinal data on ACP prevalence and impact remain limited.
    AIM: . To assess the prevalence of ACP discussions in a population of ALS patients, their effectiveness in end-of-life management, and the impact of Law 219/2017.
    METHODS: . Demographic and clinical data from the PARALS Register (2008-2020) were retrospectively examined, with particular focus on ACP discussions, tracheostomy preferences, and end-of-life outcomes.
    RESULTS: . Of 1219 ALS patients, 655 (53.7%) had ACP discussions, with 90.8% concordance between expressed choices and outcomes. The ACP prevalence increased over time from 51.6% to 61.94% (p = 0.025). Cognitive impairment, including fronto-temporal dementia and intermediate cognitive-behavioural impairment, and absence of NIMV use were negatively associated with ACP (p = 0.029 and p < 0.001). Older age was associated with tracheostomy placement (p < 0.001). ACP discussion was positively associated with gastrostomy placement, Palliative Care activation, and home death.
    CONCLUSIONS: . ACP plays a crucial role in ALS care, with high alignment between expressed choices and outcomes. Cognitive impairment reduced ACP participation, highlighting the need for earlier, tailored interventions. The ACP increase over the last decade reflects a growing emphasis on patient autonomy in Italy. Further efforts are needed to expand ACP adoption in ALS care, to support self-determination despite cognitive decline and disease progression.
    Keywords:  Advance Care Planning; Amyotrophic Lateral Sclerosis; End-of-life care; Law 219/2017; Palliative Care
    DOI:  https://doi.org/10.1016/j.jpainsymman.2026.08.002
  33. Chem Sci. 2026 Aug 12.
      Alteration of cellular microenvironment viscosity by protein aggregation plays a crucial role as a biophysical parameter that reflects abnormal cellular behaviour, leading to neurodegenerative diseases such as Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), etc. Herein, we report the design and development of a series of coumarin fluorogen-based photoremovable protecting groups (PRPGs, 5a-d) with variations in substitutions tethered with a π-extended linker that integrate viscosity sensing with visible-light-triggered release of bioactive molecules. By introducing π-extended conjugation and systematic substitution, the coumarin fluorogen-based PRPGs exhibit twisted intramolecular charge transfer (TICT)-based fluorescence modulation in response to microenvironmental viscosity. Comprehensive photophysical and photochemical investigations, supported by theoretical calculations, identified PRPG 5d as the most sensitive viscosity-responsive system with green-light absorption. Under viscous conditions, restricted bond rotation suppresses nonradiative decay and photoisomerization, enabling efficient photorelease of the neuroprotective agent valproic acid. The versatility of PRPG 5d was demonstrated in biologically relevant in vitro models, including TDP-43 protein aggregation and Parkinson's disease induced SH-SY5Y neuroblastoma cells. In both extracellular and intracellular neurodegenerative environments, increased viscosity was effectively sensed, triggering light-mediated valproic acid release and subsequent defibrillation. Overall, this work establishes coumarin fluorogen-based PRPGs as a promising platform for viscosity-guided, spatiotemporally controlled drug release, offering potential applications in the diagnosis and targeted therapy of neurodegenerative diseases.
    DOI:  https://doi.org/10.1039/d6sc03258c
  34. Braz J Phys Ther. 2026 Aug 12. pii: S1413-3555(26)00048-1. [Epub ahead of print]30(5): 101623
       BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscle weakness. Falls are common and may lead to dependence, reduced quality of life, higher healthcare costs, and death. Few studies have examined falls in ALS.
    OBJECTIVES: To investigate the frequency of falls in individuals with ALS with and without functional ambulation, and to identify predictors of falls at three and six months among those with functional ambulation.
    METHODS: A longitudinal prospective study included 66 individuals with ALS. Falls were assessed through interviews at three- and six-month follow-ups. Demographic and clinical characteristics, functional capacity, lower limb strength, fatigue, mobility, and balance were assessed. Descriptive, bivariate, and logistic regression analyses were performed.
    RESULTS: At baseline, 42 participants were ambulatory and 24 non ambulatory (wheelchair-dependent). Among ambulatory participants, 38 were assessed at three months (18 fallers, 47%) and 37 at six months (22 fallers, 59%). Among non-ambulatory participants, 22 were assessed at three months (4 fallers, 18%) and 20 at six months (2 fallers, 10%). Losses in both groups were due to death. Predictors of falls in the ambulatory group were lower limb strength (Odds Ratio [OR]: 0.844; p = 0.016) and fatigue (OR: 7.800; p = 0.037) at three months, and lower limb strength (OR: 0.856; p = 0.009) at six months.
    CONCLUSION: Falls can occur across functional profiles in ALS and are most frequent among ambulatory individuals. These findings highlight the importance of assessing fall risk and considering strategies. In ambulatory participants, interventions focusing on lower limb strength and fatigue may contribute to fall prevention.
    Keywords:  Accidental falls; Fatigue; Gait; Motor neuron disease; Muscle strength
    DOI:  https://doi.org/10.1016/j.bjpt.2026.101623
  35. Fluids Barriers CNS. 2026 Aug 11. pii: 98. [Epub ahead of print]23(1):
       BACKGROUND: Tight junctions (TJs) are a major structural component of the blood-brain barrier (BBB), contributing to brain homeostasis by restricting paracellular diffusion. Although BBB maturation begins during embryogenesis, the timing and dynamics of functional barrier maturation perinatally remain unclear. This question is particularly relevant for the striatum, a metabolically demanding brain region that undergoes rapid postnatal maturation and is vulnerable to neonatal injury.
    METHODS: We investigated developmental dynamics of BBB tracer permeability in mouse striatum using in situ microperfusion of capillaries (ISMICAP) combined with two-photon microscopy. Small-molecule tracers were applied from late embryonic (E18) to adolescent (P25) stages. Bovine serum albumin (BSA) was applied as a macromolecular tracer at P2 and P25.
    RESULTS: Small-molecule tracers, namely 7-hydroxycoumarin-3-carboxylic acid (7HCC), sulforhodamine 101 (SR101), and biocytin-tetramethylrhodamine, revealed a pronounced but transient increase in extravascular fluorescence during the neonatal phase (P0-P2), followed by progressive restriction by P12 and P25. During the neonatal permeability window, 7HCC labeled perivascular cells located ~ 2.8 μm from the endothelium and distinct from NT500/525-labeled pericytes, whereas SR101 accumulated within endothelial cytoplasm, indicating tracer-specific vascular and perivascular accumulation patterns. The membrane probe FM1-43 showed a similar temporal pattern, with enhanced diffusion to abluminal membranes and labeling of pericyte-like mural cells. In contrast, BSA showed low extravascular fluorescence at P2 comparable to P25, indicating that increased neonatal small-molecule permeability did not extend to BSA-sized macromolecules. At P25, small-molecule tracer permeability was higher in the striatum than in the cortex, whereas FM1-43 showed the opposite regional pattern.
    CONCLUSIONS: BBB maturation in the striatum is not a linear tightening process but includes a transient neonatal phase of increased TJ-associated permeability to small-molecule tracers, while remaining restrictive to BSA-sized macromolecules. Although tracer-specific vascular and perivascular accumulation patterns were observed, the overall temporal profile supports a discrete perinatal window of decreased barrier restriction. This dynamic permeability window may reflect physiological remodeling of barrier function during the perinatal transition. Defining this window mechanistically may improve understanding of neonatal brain vulnerability and may inform strategies for temporally targeted CNS drug delivery.
    Keywords:  Blood-brain barrier; Brain development; Neonatal brain; Neurovascular unit; Perivascular cells; Striatum; Tight junctions
    DOI:  https://doi.org/10.1186/s12987-026-00858-7
  36. Alzheimers Res Ther. 2026 Aug 14. pii: 187. [Epub ahead of print]18(1):
       BACKGROUND: TAR DNA-binding protein of 43 kDa (TDP-43) is often found in the brains of patients with Alzheimer's disease (AD), where it co-occurs with amyloid β plaques and tau neurofibrillary tangles, and associates with accelerated cognitive decline and brain atrophy. TDP-43's function of repressing the inclusion of cryptic exons (CEs) during RNA splicing is compromised in AD. A single-nucleotide polymorphism (SNP) located within the CE in the UNC13A gene [rs12973192 (C > G)] is associated with higher disease risk and reduced survival in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) by weakening TDP-43 binding promoting CE inclusion.
    OBJECTIVE: To investigate the influence of the rs12973192 UNC13A CE SNP and UNC13A cryptic splicing on TDP-43 pathology, survival and cognitive impairment in AD.
    METHODS: We evaluated the UNC13A CE SNP in a cohort of 1,672 AD, including 643 AD brains with available cognitive measurements and 73 AD cases for which we measured cryptic RNA levels in the amygdala. We also evaluated a cohort of 466,517 from the UK Biobank to determine associations between the UNC13A CE SNP and dementia diagnosis.
    RESULTS: In AD, the UNC13A CE SNP associated significantly with cognitive decline, but not with TDP-43 pathology or with survival. UNC13A cryptic RNA levels in the amygdala were a better predictor of cognitive decline than the UNC13A CE SNP itself, while STMN2-another well-known CE target-exhibited no such association.
    CONCLUSIONS: These findings point to UNC13A cryptic splicing as a specific driver of cognitive decline in AD, outperforming both genetic risk and other cryptic targets.
    Keywords:  Alzheimer’s disease; Cognition; Cryptic exons; Dementia; STMN2; UNC13A
    DOI:  https://doi.org/10.1186/s13195-026-02157-7
  37. Ann Neurol. 2026 Aug 11.
       OBJECTIVE: The antisense oligonucleotide tofersen is the first disease-modifying drug for SOD1-related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to reduced SOD1 activity, cause severe motor neuron impairment and tofersen-induced reduction could be deleterious. Therefore, monitoring of SOD1 activity is urgently needed.
    METHODS: SOD1 activity was analyzed in blood samples from a discovery (n = 120) and a validation cohort (n = 208), including controls, patients with sporadic ALS (sALS), C9orf72 mutation carriers (c9ALS), asymptomatic (SOD1-asym), and symptomatic SOD1 mutation carriers (SOD1-ALS). SOD1 activity was characterized in 18 patients receiving tofersen treatment.
    RESULTS: SOD1 activity was significantly lower in both SOD1-asym (median = 7.5 U/mg, interquartile range [IQR] = 7.0-9.0 U/mg) and SOD1-ALS (median = 7.9 U/mg, IQR = 7.1-9.1 U/mg) relative to controls (median = 9.2 U/mg, IQR = 8.9-10.0 U/mg, p < 0.0001), c9ALS (median = 9.4 U/mg, IQR = 8.9-10.2 U/mg, p < 0.0001) and sALS (median 9.5 U/mg, IQR 8.8-9.9 U/mg, p < 0.0001). SOD1 activity was significantly lower in individuals with deleterious SOD1 variants than in individuals with neutral variants. During tofersen treatment, neurofilament and SOD1 protein levels decreased, whereas SOD1 activity remained stable.
    INTERPRETATION: The data indicate that the positive tofersen treatment effect is independent of SOD1 activity. Lower SOD1 activity is specific to SOD1-ALS, already present in the asymptomatic phase and depends on the mutation type. Future studies should determine whether tofersen treatment affects cerebrospinal fluid (CSF) SOD1 activity. ANN NEUROL 2026.
    DOI:  https://doi.org/10.1002/ana.78328
  38. Mech Ageing Dev. 2026 Aug 11. pii: S0047-6374(26)00087-4. [Epub ahead of print]233 112235
      Brain aging and age-associated neurological diseases, such as Alzheimer's Disease (AD), Parkinson's Disease (PD), and Amyotrophic Lateral Sclerosis (ALS), are largely attributed to epigenetic drift which is characterized by the gradual accumulation of alterations in neural cell methylation patterns over time. These methylation changes are particularly evident in transposable element (TE)-derived sequences such as Long interspersed element-1 (LINE-1) which comprises approximately 17% of the human genome. During aging, LINE-1 elements gradually lose their methylation, as well as the regulatory safeguard mechanisms that usually keep them inactive. This repression loss can lead to LINE-1 reactivation, contributing to harmful effects including genomic instability, neuroinflammation, and more. Together these findings indicate that impaired epigenetic maintenance, especially in repetitive genome regions, plays a key role in biological aging of neurons and glial cells. In this narrative review, we discuss the methylation dynamics and regulatory mechanisms of LINE-1 retrotransposons, their activation processes during aging, and contribution to age-associated neurological diseases. We also highlight the potential of targeting LINE-1 methylation to restore methylation homeostasis, epigenetic stability and delay brain aging.
    Keywords:  Age-associated neurological diseases; Brain aging; Epigenetics; LINE-1
    DOI:  https://doi.org/10.1016/j.mad.2026.112235
  39. Mol Neurobiol. 2026 Aug 11. pii: 828. [Epub ahead of print]63(1):
      To investigate the effects and mechanism of a synthetic LXR agonist, T0901317, on neuronal necroptosis-related signaling pathways in NSC-34 mouse neuronal cells transfected with the TDP-43-A315T plasmid, TDP-43-A315T transgenic mice of amyotrophic lateral sclerosis (ALS). SWATH proteinomics analysis was used to compare ALS patients with cognitive impairment (CI) and non-cognitive impairment (NOCI). TDP-43 abnormal aggregation and necroptosis-related protein expression were assessed with immunofluorescence and western blotting, while apoptosis and inflammatory cytokines were measured through TUNEL assay and ELISA, muscle and motor neuron degeneration were examined with H&E and Toluidine Blue staining. Additionally, the Y-maze and Rotarod tests were used to evaluate cognitive and motor functions. Our study indicates that the LXR pathway was more downregulated in the ALS patients with cognitive impairment. RIPK1, p-RIPK3, and p-MLKL protein levels were upregulated in the TDP-43-A315T plasmid-transfected neuron cells and the TDP-43-A315T transgenic mouse model. The LXR agonist T0901317 reduced the abnormal aggregation of TDP-43 protein and downregulated the protein levels of RIPK1, p-RIPK3, and p-MLKL in vivo and in vitro. Furthermore, T0901317 attenuated motor neuron death and ameliorated muscle degeneration in TDP-43-A315T mice. T0901317 significantly prolonged survival, ameliorated cognitive and motor deficits, and shifted microglial activation marker profiles. The beneficial effects of T0901317 were abolished by LXR antagonist GSK 2033, accompanied by upregulation of necroptotic signaling. The neuroprotective effects of activating LXR may involve the regulation of the RIPK1-RIPK3-MLKL axis and TDP-43 aggregation.
    Keywords:  Aggregation; Cognitive impairment; LXR; Motor neuron; Necroptosis; Survival; TDP-43-A315T
    DOI:  https://doi.org/10.1007/s12035-026-06106-1
  40. Drug Discov Today. 2026 Aug 11. pii: S1359-6446(26)00170-4. [Epub ahead of print] 104765
      Intranasal delivery is increasingly recognised as a promising strategy for direct drug transport to the brain via the nose-to-brain pathway, bypassing the blood-brain barrier and improving therapeutic efficacy. This approach has shown potential in the treatment of neurological disorders, including Alzheimer's disease, Parkinson's disease, epilepsy, multiple sclerosis, and acute psychiatric conditions, as well as in emergencies such as anxiety attacks and migraine episodes. Recent clinical studies investigating intranasal formulations of rivastigmine, insulin, and olanzapine, among other drugs, have provided encouraging evidence supporting the clinical translation of this delivery strategy. In addition, FDA-approved intranasal products indicated for central nervous system disorders, including diazepam and midazolam for seizure management, and triptans for migraine, demonstrate the growing clinical relevance of intranasal drug delivery. Both preclinical and clinical studies have reported encouraging outcomes, particularly when intranasal delivery is combined with nanoformulations and specialised delivery devices designed to enhance olfactory deposition. Intranasal administration is non-invasive, painless, and may improve patient adherence while enhancing brain bioavailability. Nevertheless, further well-designed clinical studies are required to establish the long-term safety, efficacy, and clinical applicability of this delivery strategy.
    Keywords:  Brain targeting; Intranasal administration; Nanoformulations; Neurological conditions; Nose-to-brain
    DOI:  https://doi.org/10.1016/j.drudis.2026.104765
  41. Arch Toxicol. 2026 Aug 11.
      The brain's consumption of approximately 20% of the body's oxygen contributes to oxidative stress, a significant pathological factor in neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis. This oxidative stress, linked to low levels of antioxidant enzymes, drives neuronal death by facilitating membrane peroxidation of fatty acids, proteins, and DNA. Alzheimer's disease is characterized by amyloid-beta (Aβ) plaque accumulation and hyperphosphorylated tau aggregates, both of which interact with mitochondria to generate reactive oxygen species (ROS). Aβ peptides bind metals such as iron and copper, catalyzing the formation of damaging hydroxyl radicals. Peripheral markers of oxidative damage, such as elevated malondialdehyde and protein carbonyls, are correlated with these processes in affected patients. In Parkinson's disease, the loss of dopaminergic neurons in the substantia nigra is associated with pathological iron accumulation and mitochondrial complex I dysfunction, which are worsened by misfolded α-synuclein and mutations in antioxidant genes such as PINK1 and Parkin. The autooxidation of dopamine also drives oxidative stress through the generation of hydrogen peroxide and reactive quinones. Huntington's disease involves the degeneration of medium spiny neurons in the striatum due to a polyglutamine repeat expansion in the huntingtin gene, which disrupts mitochondrial function and downregulates antioxidants, leading to excitotoxicity and ROS spikes. Amyotrophic lateral sclerosis primarily affects motor neurons due to the mutations in SOD1, which result in the production of aggregates that impair mitochondria and generate reactive nitrogen species (RNS), such as peroxynitrite. Mitigating oxidative stress in neurodegenerative disorders presents a considerable translational challenge. While low-molecular-weight antioxidant therapies for neurodegenerative disorders have shown promising results in preclinical and animal studies because they mitigate oxidative stress, their clinical efficacy is hampered by low bioavailability and difficulty in penetrating the blood‒brain barrier. To overcome these limitations, current medical research is focused on alternative delivery systems. Innovations such as nanoparticle-based drug delivery are being actively studied to help transport low-molecular-weight antioxidants across the blood‒brain barrier more safely and effectively. Several promising epidemiological trials linked high dietary intake of vitamins C and E to a reduced risk of Parkinson's disease, and plant-derived antioxidants such as polyphenols were explored for their ability to combat neuroinflammation and reduce cognitive decline. Refined oxidative stress-suppressing strategies involve the (ii) application of mitochondrial-targeted agents to preserve ATP production; (ii) boosting the Nrf2 pathway may trigger a cascade of detoxifying enzymes; (iii) supplementation with polyphenols such as quercetin, resveratrol, and curcumin can suppress oxidative stress and dampen microglial activation (neuroinflammation); (iv) and the use of substances affecting the bidirectional network linking oxidative stress and autophagy can clear ROS-generating components. Despite some promising epidemiological data, translating oral or systemic antioxidant therapy into effective clinical treatments for humans requires further effort. A survey of current knowledge of oxidative stress and antioxidant therapy in neurodegenerative diseases is the main subject of this review.
    Keywords:  Antioxidant therapy; Neurodegenerative disorders; Oxidative stress; Redox metals
    DOI:  https://doi.org/10.1007/s00204-026-04518-5
  42. Mol Biol Rep. 2026 Aug 10. pii: 1373. [Epub ahead of print]53(1):
      Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) are established treatments for metabolic disease, with growing evidence suggesting neuroprotective potential in central nervous system (CNS) disorders. In preclinical models of Alzheimer's disease (AD), Parkinson's disease (PD), multiple sclerosis (MS), and stroke, semaglutide has been reported to reduce neuroinflammatory and oxidative stress markers and improve selected pathological or behavioral outcomes, although the specific effects vary by model and indication. However, significant translational challenges remain. The Phase 3 EVOKE and EVOKE+ trials in early symptomatic AD failed to meet primary cognitive endpoints, although biological target engagement was reported, with improvements in selected AD-related biomarkers including p-tau181, p-tau217, neurogranin, YKL-40, and plasma hsCRP. This dissociation between biomarker changes and clinical benefit may reflect treatment timing, advanced neurodegeneration, limited CNS exposure, endpoint sensitivity, or other factors. In contrast, observational studies suggest an association between semaglutide or GLP-1 RA exposure and lower dementia-related risk in at-risk populations, although preservation of cognitive reserve has not been directly demonstrated and causality has not been established. This review evaluates the current mechanistic, preclinical, and emerging clinical evidence for semaglutide across neurodegenerative and neuroinflammatory disorders, with emphasis on distinguishing semaglutide-specific findings from broader GLP-1 RA class effects and identifying key translational limitations. Collectively, current evidence supports continued investigation of semaglutide as a potential neuroprotective strategy, while highlighting the need for earlier intervention studies, improved understanding of CNS target engagement, and further clinical validation.
    Keywords:  Central nervous system disorders; GLP-1 receptor agonists; Neurodegeneration; Neuroinflammation; Oxidative stress; Semaglutide
    DOI:  https://doi.org/10.1007/s11033-026-12549-5
  43. Occup Environ Med. 2026 Aug 04. pii: oemed-2025-110662. [Epub ahead of print]
       OBJECTIVE: To systematically review the evidence on the association between occupational exposure to pesticides and the risk of amyotrophic lateral sclerosis (ALS).
    METHODS: A systematic search, conducted in eight bibliographic databases for publications between 1990 and 2025, identified observational studies estimating the risk of ALS after occupational pesticide exposure. Study quality was assessed using the WHO Risk of Bias (RoB) assessment instrument for systematic reviews, with the ROBINS-E (RoB in non-randomised studies of exposure) tool domains of bias. Pooled risk estimates were produced using random-effects models with restricted maximum likelihood, heterogeneity was assessed with I² statistics, and meta-regressions and publication bias explored with funnel plots and Egger's test.
    RESULTS: Eight case-control studies (1734 cases) were retained for meta-analysis from 767 initially screened articles. 'Ever' occupational exposure to pesticides was associated with an increased risk of ALS (n=6 studies, pooled OR (pOR)=1.6; 95% CI 1.1, 2.2; I²=57%), for combined sexes. The risk for exposure to herbicides was slightly greater (pOR=1.7, I2=0.0%) than for exposure to insecticides or fungicides (pORs=1.6, I2=0.0%). Based on three studies, ever exposure to high levels of pesticides was associated with a higher risk (pOR=2.7; 95% CI=1.4, 5.0) than exposure to low levels (pOR=1.9; 95% CI=1.0, 3.7). Self-reported exposure assessment methods and older publication dates (<2015) were statistically significant predictors of the effect size.
    CONCLUSION: Despite the small number of studies and some heterogeneity, our results add to the evidence suggesting that occupational exposure to pesticides may increase the risk of ALS.
    Keywords:  Agriculture; Epidemiology; Meta-analysis; Occupational Health; Pesticides
    DOI:  https://doi.org/10.1136/oemed-2025-110662
  44. Int J Mol Sci. 2026 Aug 01. pii: 6897. [Epub ahead of print]27(15):
      The SARS-CoV-2 virus has infected approximately 778 million people worldwide since the pandemic. Patients who have survived coronavirus disease (COVID-19) may experience long-term symptoms related to cognitive deficits, mood changes, and depressive disorders. The mechanisms underlying the long-term effects of COVID-19 on the brain are being actively investigated. SARS-CoV-2 infection triggers various mechanisms, such as hyperstimulation of the immune response, which may lead to changes in the central nervous system. In this article, we review the evidence linking COVID-19 to neurodegenerative disorders and cognitive impairment. Current research indicates that patients with pre-existing cognitive and neuropsychiatric deficits have a poorer prognosis after SARS-CoV-2 infection, and patients who have survived COVID-19 may be at increased risk of developing dementia and mood disorders. We analyse the available evidence regarding SARS-CoV-2 brain infection, induction of inflammation, coagulopathy, and blood-brain barrier (BBB) dysfunction as possible mechanisms underlying the disorders in the acute phase of COVID-19 disease and contributing to the development of neurodegenerative disorders in long COVID. Viral infection can trigger inflammation of the central nervous system (CNS), leading to damage and contributing to the development of cognitive dysfunction.
    Keywords:  COVID-19; cognitive impairment; neurodegenerative diseases
    DOI:  https://doi.org/10.3390/ijms27156897
  45. Pharmacol Res. 2026 Aug 11. pii: S1043-6618(26)00298-7. [Epub ahead of print]231 108383
      Neurodegenerative diseases represent a major global public health challenge, imposing substantial societal and economic burdens. Their complex pathogenesis and limited therapeutic options underscore an urgent need for new paradigms. Emerging evidence indicates that dysregulation of the brain's immune microenvironment is a critical driver of disease progression. Conventional wisdom posits that peripheral immune cells and central glial cells serve as the primary initiators of neuroimmune responses, whereas neurons are regarded merely as passive recipients of inflammatory damage. Emerging evidence suggests that upon receiving pathological signals in the central nervous system, neurons may become more vulnerable and participate in the onset of neuroimmune processes, positioning them as potential targets for early intervention in neurodegenerative diseases. This article systematically reviews the contribution of neuron-derived immune-inflammatory responses in neurodegenerative diseases and potential intervention strategies. We first outline the capacity of neurons to regulate neuroimmune responses and detail the underlying molecular mechanisms. Then we compare the specific mechanisms by which neurons with different susceptibility drive and amplify neuroinflammation in various neurodegenerative diseases such as alzheimer's disease, parkinson's disease, amyotrophic lateral sclerosis, vascular cognitive impairment, and transformed these mechanisms into intervention strategies targeting neurons. This article aims to break through the traditional concept of passive neuronal damage, systematically integrate intervention strategies that shift from targeting peripheral immune and glial cells to regulating neuron-derived immunity, thereby providing a new theoretical framework for overcoming current clinical limitations and identifying effective therapeutic targets for the prevention and treatment of neurodegenerative diseases.
    Keywords:  Intervention Prospects; Mechanisms; Neurodegenerative diseases; Neuroinflammation; Neuron-derived
    DOI:  https://doi.org/10.1016/j.phrs.2026.108383
  46. Iran J Pathol. 2026 Sep 01. 21(4): 507-522
       Background & Objective: The gut-brain axis is essentially a two-way communication system that physically connects the brain and the intestinal tract. The connection is mediated through a series of pathways, including neural, endocrine, and immune pathways. Gut dysbiosis, which is explained as an imbalance in the microbial community, has been linked to the causation of various neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease, and multiple sclerosis. However, the pathological mechanisms in the brain are only partially known. The present review outlines the process of gut dysbiosis and neurodegeneration, detailing the roles of protein aggregation, neuroinflammation, barrier disruption, and neuroglial dysfunction. Then, extending the comparison to a range of neurodegenerative diseases, we discuss the possibility of common pathway therapeutics and actual microbiome-based treatment options planning from the standpoint of microbiome-directed interventions.
    Content/Findings: Gut dysbiosis triggers a definable cascade, starting with the disruption of the intestinal barrier and increased permeability (leaky gut), which allows bacterial products (lipopolysaccharides, bacterial amyloids) and pro-inflammatory cytokines to enter systemic circulation. Such peripheral changes weaken the blood-brain barrier and thus allow these factors to access the CNS, where they lead to neuroglial dysfunction (microglial priming, astrocytic reactivity, and oligodendrocyte injury) by disruption of glial homeostasis. CNS glial cell malfunction leads to the development of proteinopathies characteristic of each disease: amyloid and tau hyperphosphorylation in Alzheimer's disease through BACE1 upregulation and kinase activation; synuclein in Parkinson's disease via molecular mimicry, oxidative stress, and impaired clearance; and demyelination in multiple sclerosis through oligodendrocyte apoptosis. Oral bacteria such as Porphyromonas gingivalis aggravate this inflammatory loop through the direct invasion of the CNS and proteolytic cleavage of amyloid and tau. The vagus nerve is yet another pathway through which gut-derived inflammatory signals and pathological synuclein can be transmitted to the brain.
    Conclusion: The gut microbiome is more than just a correlate of neurodegeneration; it actively promotes neurodegenerative diseases through pathways that can be mechanistically defined. Microbiome-targeted interventions such as dietary changes, precision probiotics, fecal microbiota transplantation, and anti-inflammatory agents offer a measure of hope for changing these pathological processes. Future studies need to be directed at determining the time sequence of cause and effect, finding dependable microbiota-based biomarkers, and formulating tailored strategies that can account for individual microbial composition variability, genetic susceptibility, and environmental exposures. A deeper understanding of the gut-brain axis from this mechanistic perspective could eventually lead to the prevention or postponement of neurodegeneration.
    Keywords:  Brain; Dysbiosis; Gastrointestinal Microbiome; Gut-Brain Axis; Inflammation; Neurodegenerative Diseases
    DOI:  https://doi.org/10.22034/ijp.2026.2081887.3613
  47. Biology (Basel). 2026 Jul 25. pii: 1235. [Epub ahead of print]15(15):
      The mechanisms underlying neurodegenerative diseases (NDDs) involve multiple pathological processes, such as abnormal protein aggregation, oxidative stress, neuroinflammation, mitochondrial dysfunction, and the disruption of neurovascular unit homeostasis. The blood-brain barrier (BBB) restricts drug exposure in the brain, posing a significant challenge for central nervous system delivery and for improving therapeutic efficacy. In recent years, carbon dots derived from natural products (CDs) have emerged as candidate materials for brain delivery and theranostic applications due to their small size, modifiable surfaces, fluorescence-tracking capability, and potential neuroprotective activity. This narrative review summarizes their sources, physicochemical characteristics, biological basis, interactions with the BBB, delivery strategies, neuroprotective effects, and imaging applications. Current evidence suggests that these CDs can alleviate oxidative stress and inflammatory responses, influence abnormal protein aggregation, and support drug delivery and fluorescence tracking in certain cellular and animal models. However, BBB permeability, brain fluorescence signals, brain parenchymal exposure, and therapeutic efficacy represent distinct levels of evidence and should not be considered interchangeable. Future studies should focus on strengthening material standardization, ensuring batch-to-batch consistency, characterizing absorption, distribution, metabolism, and excretion (ADME), conducting long-term safety assessments, and validating using humanized BBB models.
    Keywords:  blood–brain barrier; brain delivery; natural product-derived carbon dots; neurodegenerative diseases; neuroprotection; theranostics
    DOI:  https://doi.org/10.3390/biology15151235
  48. Neurobiol Dis. 2026 Aug 04. pii: S0969-9961(26)00305-0. [Epub ahead of print]228 107560
      Nuclear depletion and cytoplasmic mislocalization of TDP-43 are central pathological features of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. TDP-43 protein levels are normally maintained by autoregulation through its native 3' untranslated region (3' UTR), but whether this feedback remains protective during chronic cytoplasmic bias is unclear. To address this, we engineered full-length human TDP-43 carrying an N-terminal nuclear export signal (NES) while retaining the native 3' UTR autoregulatory module. In HEK293T cells, NES insertion imposed cytoplasmic bias and promoted detergent-insoluble TDP-43 species. In differentiated SH-SY5Y cells, nuclear splicing defects and autoregulatory changes scaled with export-biased load; detergent-insoluble accumulation was already detectable within a low-load range, defined by whole-cell RIPA-soluble exogenous TDP-43 ≤ 30% of endogenous levels. Human iPSC-derived neurons showed a comparable cytoplasmic shift, discrete TDP-43-immunoreactive foci, and TDP-43-dependent splicing defects. Endogenous TARDBP depletion provided a functional rescue test: nuclear-competent WT-TDP-43-3' UTR restored TDP-43-dependent nuclear readouts, whereas NES-TDP-43-3' UTR did not. In the NES condition, weakened autorepression increased transgene-derived TARDBP transcripts, but the added output failed to expand the soluble, splice-competent pool and instead partitioned into insoluble fractions. Increasing soluble NES-TDP-43 to endogenous-equivalent levels likewise did not normalize splicing, indicating that abundance alone is insufficient when output remains export-biased. These findings support a model in which persistent export bias converts native TARDBP autoregulation into maladaptive feedback: compensatory output is uncoupled from productive nuclear recovery and diverted toward cytoplasmic insoluble/fragmented species.
    Keywords:  3′ UTR-mediated autoregulation; ALS/FTLD; Detergent-insoluble TDP-43; Nuclear export signal (NES); TDP-43-dependent splicing
    DOI:  https://doi.org/10.1016/j.nbd.2026.107560
  49. Mol Neurobiol. 2026 Aug 10. pii: 827. [Epub ahead of print]63(1):
      Homeostasis of amino acids is essential for the integrity of the CNS, and is maintained by a tightly regulated transport and metabolic circuit that ensures efficient neurotransmission, mitochondrial bioenergetics and redox homeostasis. Disruption of this equilibrium is associated with the pathogenesis of the major neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, Huntington's disease and Amyotrophic lateral sclerosis. Excessive glutamatergic stimulation and impaired glycine or homocysteine metabolism result in pathological Ca2⁺ influx, loss of mitochondrial membrane potential and production of reactive oxygen species, which are hallmarks of these disorders. It also limits cysteine availability and causes glutathione depletion, which affects antioxidant defence, and disrupts tryptophan-kynurenine metabolism, further affecting neurotoxic and neuroprotective signalling. Though there are disease-specific molecular triggers, the convergent pathogenesis of metabolic disruption makes neurons susceptible to disease. The convergent pathways link amino acid dysregulation to the reinforcement of each other's mechanisms of excitotoxicity, oxidative stress, mitochondrial dysfunction, and protein aggregation. Correcting the amino acid balance has clear translational potential for developing new therapies, such as glutathione augmentation, modulation of NMDA receptors, targeting of transporters, and regulation of metabolic enzymes. In addition, the use of metabolic biomarkers alongside neuroprotective endpoints in clinical trials could improve detection rates, patient stratification, and therapeutic precision. The concept of amino acid metabolism as a mechanism of neurodegeneration, therefore, provides a systems-level perspective and targets potential areas for continued neuroprotection and disease modification.
    Keywords:  Amino acid; Amino acid metabolism; Excitotoxicity; Metabolic dysregulation; Mitochondrial dysfunction; Neurodegeneration
    DOI:  https://doi.org/10.1007/s12035-026-06121-2
  50. Clin Ophthalmol. 2026 ;20 609387
       Purpose: Neurodegenerative and neurovascular disorders are increasingly recognized as major causes of disability worldwide and require accessible biomarkers for early detection and monitoring. Given the close anatomical and microvascular relationship between the retina and the central nervous system, optical coherence tomography angiography (OCTA) has emerged as a promising non-invasive technique for assessing retinal microvascular alterations associated with neurological disease. This systematic review and meta-analysis evaluated OCTA-derived retinal microvascular parameters as potential biomarkers of neurovascular dysfunction.
    Methods: This systematic review and meta-analysis was conducted in accordance with PRISMA guidelines and registered in PROSPERO (CRD420261305354). PubMed, Embase, Scopus, Web of Science, and the Cochrane Central Register of Controlled Trials were searched from January 2015 to December 2025. Studies comparing OCTA-derived retinal vascular parameters between patients with neurodegenerative or neurovascular disorders and healthy controls were included. Primary outcomes were superficial capillary plexus vessel density (SCP-VD), deep capillary plexus vessel density (DCP-VD), and foveal avascular zone (FAZ) area. Standardized mean differences (SMDs) with 95% confidence intervals (CIs) were pooled using random-effects models.
    Results: Thirteen studies were included in the quantitative synthesis. Compared with healthy controls, patients with neurodegenerative or neurovascular disorders demonstrated significantly reduced SCP vessel density (SMD -0.60, 95% CI -0.78 to -0.43; I2 = 43%) and DCP vessel density (SMD -0.84, 95% CI -1.15 to -0.53; I2 = 78%). FAZ area was significantly enlarged in disease groups (SMD 0.62, 95% CI 0.29 to 0.94; I2 = 83%). Disease-specific subgroup analyses demonstrated generally consistent trends across the included disorders.
    Conclusion: OCTA-derived retinal microvascular alterations were consistently associated with neurodegenerative and neurovascular disorders. Reduced retinal vessel density, particularly within the deep capillary plexus, and enlargement of the FAZ may reflect underlying neurovascular dysfunction. While these findings support the potential role of OCTA as a non-invasive biomarker of neurological disease, the available evidence remains limited by methodological heterogeneity and predominantly observational study designs. Further longitudinal studies using standardized OCTA protocols are needed to establish the diagnostic and prognostic utility of these biomarkers.
    Keywords:  Alzheimer’s disease; biomarkers; neurodegenerative diseases; optical coherence tomography angiography; retinal microvasculature
    DOI:  https://doi.org/10.2147/OPTH.S609387
  51. Aging Cell. 2026 Aug;25(8): e70660
      Microglia, the resident macrophages of the central nervous system (CNS), are key players in maintaining brain and spinal cord homeostasis and protecting the CNS from damage and disease. During aging, the brain undergoes profound changes-including chronic low-grade inflammation, synaptic dysfunction, and increased vulnerability to neurodegenerative diseases-all of which are closely related to alterations in microglial function. One emerging theme is that microglial metabolism is a crucial determinant of their immune and homeostatic activity. In this mini-review, we explore how metabolic programs shape brain microglial behavior and how these processes change during aging and in neurodegenerative diseases. We first highlight the link between specific metabolic pathways and key microglial functions, including phagocytosis, cytokine production, and the oxidative stress response. We then discuss how microglial metabolism is reprogrammed during healthy aging and in Alzheimer's disease and Parkinson's disease, including sex-specific differences. Finally, we examine regulators that influence microglial metabolic states and discuss how these pathways contribute to disease susceptibility and progression. Collectively, recent findings highlight the central role of metabolic reprogramming in shaping microglial responses during aging and in neurodegenerative diseases. We emphasize the need for integrative studies that consider microglial subsets, sex differences, disease context, and upstream molecular regulators to better understand how microglial metabolism contributes to brain health and pathology. A deeper understanding of these pathways may offer new opportunities for therapeutic strategies aimed at restoring microglial homeostasis and mitigating harmful neuroinflammatory processes.
    Keywords:  Alzheimer's disease; Parkinson's disease; brain aging; metabolism; microglia; neuroinflammation; sex differences
    DOI:  https://doi.org/10.1111/acel.70660
  52. Neurodegener Dis Manag. 2026 Aug 10. 1-8
       AIMS: The primary aim was to explore the relationship between neck weakness in people with motor neurone disease (MND) and their respiratory function. The secondary aim was to identify whether neck weakness can be a prognostic factor.
    METHODS: This was a retrospective observational cohort study. Data was collected from patient records on MND characteristics, neck weakness, respiratory function, and noninvasive ventilation (NIV) use. Multivariate modeling explored the effect of neck weakness on respiratory variables.
    RESULTS: MND-related neck weakness was evident in 41% of 324 participants. Fifty-four percent used NIV and 17% became dependent on NIV during disease progression. The presence of neck weakness in MND was predictive of time to respiratory function decline, for respiratory outcomes (forced vital capacity (FVC) <65%, FVC <50% and NIV use) as well as having an effect on time to death. Median time from neck weakness onset to death was 8 months (IQR 10 months; range 0 to 60 months) with bulbar onset the quickest, median of 7 months (IQR 7 months, range 0 to 43 months).
    CONCLUSIONS: The presence of neck weakness is associated with a more rapid respiratory function decline in MND. In addition, neck weakness can be considered a prognostic factor in MND survival.
    Keywords:  ALS; MND; Motor neuron disease; NIV; amyotrophic lateral sclerosis; neck weakness; noninvasive ventilation; prognosis
    DOI:  https://doi.org/10.1080/17582024.2026.2705867
  53. Ther Deliv. 2026 Aug 11. 1-40
      Exosomes are naturally occurring extracellular vesicles that have emerged as promising bio-inspired nanocarriers for the treatment of neurological disorders owing to their intrinsic biocompatibility, low immunogenicity, and ability to cross the blood-brain barrier. This review highlights recent advances in exosome biology, cargo-sorting mechanisms, and engineering strategies designed to enhance therapeutic delivery and targeting within the central nervous system. Particular emphasis is placed on the application of engineered exosomes in neurodegenerative diseases, stroke, spinal cord injury, neuropathic pain, and neuroinflammatory disorders. In addition, we discuss how exosomes compare with conventional delivery platforms and critically examine the major barriers limiting their clinical translation, including heterogeneity, scalability, reproducibility, purity, and regulatory standardization. By integrating mechanistic insights with translational perspectives, this review provides a framework for the rational design and future clinical implementation of exosome-based nanomedicines for neurological disorders. Relevant literature was identified through searches of PubMed, Scopus, Web of Science, and Google Scholar. Publications available from database inception through [Month Year] were screened using combinations of keywords including "exosomes," "extracellular vesicles," "neurological disorders," "brain-targeted delivery," "exosome engineering," "drug delivery," and "clinical trials." Additional relevant articles were identified through manual searches of reference lists from selected studies and recent reviews.
    Keywords:  Exosomes; blood-brain barrier; drug delivery systems; exosomal engineering; neurological disorders
    DOI:  https://doi.org/10.1080/20415990.2026.2715878
  54. Int J Mol Sci. 2026 Jul 27. pii: 6702. [Epub ahead of print]27(15):
      The blood-brain barrier (BBB) carefully regulates the transport of molecules between the blood and the nervous tissue. Obstructive sleep apnea (OSA) is a chronic condition that induces structural and functional changes in the BBB. These include alterations in its permeability and in protein expression in the BBB capillary endothelium. Moreover, OSA alters blood levels of transcription factors, such as hypoxia-inducible factor 1 (HIF-1), which are suggested to be responsible for these changes. As a review article, this paper focuses on the most significant effects of OSA on the BBB, including deviations in barrier morphology, particularly changes in the expression of tight junction and adherens junction proteins and membrane channels, as well as their impact on transport across the barrier. Moreover, particular attention is given to emerging evidence for the differential regulation of major BBB efflux transporters, including P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP), as well as the role of the HIF-1 pathway. Additionally, we summarize the current state of knowledge regarding the contribution of these BBB alterations to the development of neurodegenerative diseases. At the same time, altered transport is being investigated as a possibility for delivering new drugs to the central nervous system. Thus, this review aims to summarize the current knowledge about OSA's impact on the BBB.
    Keywords:  HIF-1; P-glycoprotein; VE-cadherin; VEGF; blood–brain barrier; breast cancer resistance protein; obstructive sleep apnea; tight junction proteins
    DOI:  https://doi.org/10.3390/ijms27156702
  55. Aging Dis. 2026 Aug 04.
      Studies of short-chain fatty acids (SCFAs) in Alzheimer's disease (AD) report protective, neutral, and adverse findings, but the same class label often conceals non-equivalent exposures and endpoints. We propose an AD-specific interpretive framework that organizes this heterogeneity as a causal sequence: source or intervention → SCFA species, dose, and route → absorption and metabolic filtering → target-compartment exposure → host and disease state → responding cell type → endpoint. Seven interdependent axes-SCFA species, dose, route, compartment, exposure context, disease stage, and responding cell type-identify the coordinates needed to compare studies. This organization separates administered dose from achieved exposure, direct entry into the central nervous system from blood-brain barrier or peripheral gut-brain signaling, and stage-related disease biology from evidence of stage-specific treatment efficacy. It also requires symmetric interpretation of null findings according to exposure verification, target engagement, power, cellular resolution, and endpoint specificity. The framework integrates rather than replaces established microbiome, pharmacological, and neuroimmune principles and has not been validated as a predictor of effect direction. Its explanatory value can be tested by prespecified meta-regression, variance partitioning, interaction analysis, matched-exposure replication, and causal mediation. Persistent opposite effects under matched coordinates would indicate missing dimensions or failure of the framework. This Perspective therefore supports mechanism-linked, biomarker-informed research rather than nonspecific SCFA supplementation in unselected patients.
    DOI:  https://doi.org/10.14336/AD.2026.0777
  56. NAM J. 2026 ;2 100121
      In vitro studies are widely used to measure chemical neurotoxicity or neuroactivity. To show similar activity in vivo, chemicals need to cross the blood-brain barrier (BBB), a membrane that controls chemical movement from the bloodstream to the brain. Machine learning (ML) models present a rapid, cost-effective alternative to experimental methods for predicting BBB permeability. We developed and validated a set of ML models to predict BBB permeability by employing various molecular descriptors and ML algorithms. Models were rigorously evaluated using 5-fold cross-validation and scaffold splitting approaches. Balancing techniques were utilized to address dataset imbalance. Predictions from individual models were combined into a consensus model, which demonstrated the most robust and stable performance. After applying data-balancing techniques, the final consensus model achieved a balanced accuracy of 0.81 for the scaffold splitting validation. SHAP (SHapley Additive exPlanations) analysis identified the topological polar surface area (TopoPSA) as the most critical molecular feature affecting BBB permeability. Additionally, we identified 88 molecular fragments frequently found in BBB-permeable compounds, with nitrogen-containing rings being the most common. Regression model development was more challenging; the Graph Neural Network model performed best with a coefficient of determination (R2) of 0.48. The practical utility of the consensus model was demonstrated by screening 6031 compounds identified by in vitro assay as dopamine D2 receptor (DRD2) antagonists. The consensus model predicted that 27% of these compounds would not cross the BBB in vivo, highlighting how this model can be used to deprioritize in vitro assay testing of chemicals that will likely produce false positive results.
    Keywords:  Blood-brain barrier permeability; Classification and regression models; Important molecular features; Machine learning modeling; Structural alerts
    DOI:  https://doi.org/10.1016/j.namjnl.2026.100121
  57. Hum Mol Genet. 2026 Aug 10. pii: ddag076. [Epub ahead of print]35(17):
      Although sequencing costs have steadily decreased with advances in technology, they remain high for large scale studies. The design of traditional individual-disease sequencing studies is either case only or cases with relatively few controls, resulting in potential loss of statistical power for discovery of disease associated genes. Here we show that for a given number of sequenced cases, a large control sample size is critical to maximize power for rare variant burden analysis. Furthermore, we have developed an end-to-end workflow based tool (CoCoRV-nf) to facilitate the use of external biobank sequence resources as controls. The modules include consistent variant QC, variant annotation, ancestry population prediction, and gene based burden analysis using summary genotype information, and combined analysis from multiple independent results. The tool supports exomes and genomes from gnomAD and All of Us as controls with preprocessed datasets. We apply the tool in two rare neurological diseases: amyotrophic lateral sclerosis and neuroblastoma. For each disease, two case cohorts are paired with gnomAD and All of Us data, respectively, followed by a combined analysis. Not only did we recapture known genes, but also, we identified new candidate genes for both diseases. By leveraging multiple large external biobank sequence data, we demonstrate the feasibility of using our tool to maximize statistical power to identify new disease predisposition genes.
    Keywords:  biobank sequence resources; external controls; predisposition genes; rare variant burden analysis
    DOI:  https://doi.org/10.1093/hmg/ddag076
  58. Cells. 2026 Jul 29. pii: 1365. [Epub ahead of print]15(15):
      The discovery of RNA in the late 19th century revolutionized the understanding of cell biology. Subsequent discoveries over the next six decades revealed a key role for RNA in protein synthesis. Nevertheless, today, the mechanisms driving RNA metabolism remain enigmatic. Given its fundamental cellular role, RNA alterations are strongly linked to disease, including devastating neurodegenerative disorders pathologically defined by the accumulation of RNA-binding proteins. For example, the mislocalization of TDP-43, an RNA-binding protein, is a pathological feature of amyotrophic lateral sclerosis and frontotemporal dementia TDP-43. Another group of more than 20 neurodegenerative disorders, called tauopathies, is characterized by the aberrant accumulation of the protein tau. Similarly, the emerging concept that tau binds RNA, facilitating the formation of pathological structures, highlights the importance of RNA stability in tauopathies. However, the dynamics and consequences of RNA-tau interactions remain unclear. This review comprehensively catalogs key findings linking tau, RNA, and stress granules. These findings are important because they could offer novel opportunities to design therapeutic strategies.
    Keywords:  RNA; neurodegeneration; neurodegenerative disease; stress granules; tau
    DOI:  https://doi.org/10.3390/cells15151365
  59. Front Aging Neurosci. 2026 ;18 1870764
       Background: In Alzheimer's disease (AD), neurovascular unit and blood-brain barrier (BBB) abnormalities are assessed using biologically distinct readouts, often across separate cohorts, complicating interpretation across clinical stages and biomarker domains.
    Methods: We searched major databases (inception to February 7, 2026) for human observational studies quantifying cerebrospinal fluid (CSF) soluble platelet-derived growth factor receptor-β (sPDGFRβ), dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) K trans, or the CSF/serum albumin quotient (QAlb) in cognitively normal (CN), mild cognitive impairment (MCI), and AD dementia groups. Primary contrasts were MCI versus CN, AD dementia versus CN, and AD dementia versus MCI. Outcomes were analyzed separately using standardized mean differences (SMDs) in random-effects models with restricted maximum-likelihood estimation and Hartung-Knapp adjustment. Sensitivity analyses incorporated amyloid/AT (N)-informed biologic anchoring and evidence-tier restrictions where possible.
    Results: We included 24 cross-sectional studies (3,644 participants). Compared to CN, MCI showed higher CSF sPDGFRβ (SMD 0.38, 95% CI 0.03-0.73) and DCE-MRI K trans (SMD 0.91, 95% CI 0.09-1.73; highly heterogeneous and based on five studies), whereas the difference for QAlb was smaller (SMD 0.19, 95% CI 0.01-0.37). Stricter etiologic restriction weakened the robustness of MCI-stage estimates, particularly for early AD-specific inferences in cohorts without consistent biomarker confirmation. Tier 1-only pooling was not feasible because biomarker-confirmed MCI-stage evidence was sparse. AD dementia versus CN comparisons showed higher values across all readouts: CSF sPDGFRβ (SMD 0.43, 95% CI 0.12-0.73), K trans (SMD 0.90, 95% CI 0.56-1.25; based on four studies), and QAlb (SMD 0.28, 95% CI 0.10-0.45). AD dementia versus MCI comparisons showed no significant pooled differences for CSF sPDGFRβ or QAlb; K trans pooling was precluded by insufficient data.
    Conclusion: Pericyte- and BBB-related readouts showed readout-specific, cross-sectional detectability patterns across the AD clinical continuum. K trans findings should be considered preliminary because of the small evidence base, and MCI-stage estimates remain limited by etiologic uncertainty. Overall, CSF sPDGFRβ, DCE-MRI K trans, and QAlb appear related but non-interchangeable, and the present cross-sectional evidence should not be interpreted as demonstrating temporal priority, within-person progression, or head-to-head biomarker superiority.
    Systematic review registration: PROSPERO, CRD420251142518.
    Keywords:  Alzheimer’s disease; blood–brain barrier; mild cognitive impairment; pericytes; soluble platelet-derived growth factor receptor-β
    DOI:  https://doi.org/10.3389/fnagi.2026.1870764
  60. Immunol Invest. 2026 Aug 11. 1-28
       BACKGROUND: Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis are increasingly recognized as disorders influenced not only by intrinsic neural pathology but also by systemic physiological networks, including the gut-brain axis. Emerging evidence highlights physical activity as a potent modulator of this bidirectional communication system, with muscle-derived signals particularly myokines, metabolites, and extracellular vesicles playing a central role.
    METHODS: This narrative review synthesizes current knowledge on how exercise-induced molecular mediators influence gut microbiota composition, intestinal barrier integrity, immune signaling, and neuroinflammatory pathways. Findings were integrated across the disciplines of neuroscience, microbiology, and exercise physiology to evaluate mechanistic links between muscle-secreted factors and gut-mediated responses.
    RESULTS: Mechanistic links exist between muscle-secreted factors such as irisin, cathepsin B, BDNF-inducing pathways, and lactate with microbial metabolites including short-chain fatty acids. These interacting pathways demonstrate a combined impact on neuroprotection, synaptic plasticity, and the modulation of disease progression in neurodegenerative conditions.
    CONCLUSION: Physical activity represents a promising non-pharmacological strategy for modulating the gut-brain axis in neurodegenerative conditions. Understanding the interplay between muscle-derived signals and gut-mediated pathways may open new avenues for targeted interventions aimed at slowing or preventing neurodegenerative decline.
    Keywords:  Gut–brain axis; Physical activity; myokines muscle-derived signals; neurodegenerative diseases
    DOI:  https://doi.org/10.1080/08820139.2026.2689670
  61. J Physiol Biochem. 2026 Aug 14. pii: 81. [Epub ahead of print]82(1):
      Parkinson's disease (PD), a prevalent neurodegenerative disorder, is characterized by the degeneration of dopaminergic neurons in the substantia nigra and striatum of the midbrain, manifesting as distinct motor impairments. While conventional theories attribute PD's development to neuronal damage, astrocytes have garnered significant attention for their potential protective role. As the most abundant glial cells in the central nervous system (CNS), astrocytes may exert neuroprotective effects through mechanisms including secretion of neurotrophic factors, regulation of the blood-brain barrier (BBB), and maintenance of water-electrolyte balance. Recent studies indicate that mutations in PD-associated genes may induce functional alterations in astrocytes. Activated astrocytes accelerate neuronal degeneration by releasing inflammatory mediators, disrupting glutamate homeostasis, and triggering oxidative stress. Furthermore, bidirectional regulatory interactions exist between astrocytes and both dopaminergic neurons and other glial cells in PD. This review systematically summarizes current research on astrocyte involvement in PD pathology and their neuronal interaction mechanisms, further exploring their interconnections to elucidate disease pathogenesis. The findings provide novel theoretical frameworks for developing astrocyte-targeted therapies and preventive strategies against PD.
    Keywords:  Apoptosis; Astrocytes; Neuroinflammation; PD; Signaling pathways
    DOI:  https://doi.org/10.1007/s13105-026-01218-7
  62. Mult Scler Relat Disord. 2026 Aug 01. pii: S2211-0348(26)00446-3. [Epub ahead of print]114 107411
      Multiple Sclerosis (MS) is a disorder in which autoinflammatory processes contribute significantly to brain and spinal cord pathology. However, the driver of immune dysfunction and the precise pathological mechanisms that result in oligodendrocyte and axonal injury remain incompletely characterised. Following an exhaustive analysis of epidemiological data, John F Kurtzke concluded that an immune process is the "cart" rather than the "horse" and that there is a real possibility of one horse and this horse is a specific, albeit unidentified, infection. A central role for an infectious agent in the aetiology of multiple sclerosis can also be inferred from basic principles of immunology, that are verified in animal models of neuroinflammation, and there are important similarities between multiple sclerosis and proto-typical neuro-inflammatory conditions arising from HTLV-1 and Mycobacterium Leprae infection. Both MS and HTLV-1 associated myelopathy have a discrete geographical distribution and immuno-genetic factors contribute to disease susceptibility, with both disorders occurring three times more commonly in females than males. Leprosy, like MS, has a variable pathological phenotype and heterogeneous patterns of peripheral nerve injury in leprosy reflect the effects of both bacterial determinants and a range of host immune responses. To date an infectious cause of MS has not been established. The requisite characteristics of an infectious agent causing MS will include the ability to infect oligodendrocytes and the presence of antigen(s) reactive with the CSF-specific oligoclonal bands detected in 90-95% of individuals with MS. It is postulated that the heterogeneity of MS pathology will reflect a range of individual immune responses to a single pathogen that meets these stipulated criteria.
    Keywords:  Animal models; Epidemiology; Epstein-barr virus; Immunopathology; Multiple sclerosis; Virus
    DOI:  https://doi.org/10.1016/j.msard.2026.107411
  63. Noro Psikiyatr Ars. 2026 ;63 482-494
      Interleukin-6 (IL-6) is a multifunctional cytokine that plays a critical role in immune regulation, host defense, and tissue repair. Within the central nervous system (CNS), IL-6 contributes to both neuroprotection and neuroinflammation, depending on the signaling pathway involved; classic signaling, trans-signaling, or trans-presentation. Dysregulation of IL-6, particularly through sustained overexpression, disrupts the blood-brain barrier (BBB) integrity, promotes glial activation, and amplifies chronic inflammation, thereby contributing to the pathophysiology of numerous neurological disorders. This review aims to evaluate the role of IL-6 in neuroinflammatory processes and its clinical implications across a spectrum of neurological diseases. It focuses on the therapeutic potential and safety profile of IL-6 inhibitors, particularly tocilizumab and satralizumab. Key conditions discussed include neuromyelitis optica spectrum disorder (NMOSD), myelin oligodendrocyte glycoprotein-associated disease (MOGAD), autoimmune encephalitis (AE), neuro-Behçet's disease (NBD), myasthenia gravis (MG), epilepsy, multiple sclerosis (MS), and Alzheimer's disease (AD). Clinical trials have demonstrated the efficacy of IL-6 receptor blockade in reducing relapse rates in NMOSD, leading to regulatory approvals. Promising off-label results have also been reported in treatment-resistant cases of MOGAD, epilepsy, and autoimmune conditions. However, IL-6 inhibition carries risks such as serious infections and paradoxical inflammatory reactions. Targeting the IL-6 pathway represents a significant advancement in neuroimmunology, offering new therapeutic opportunities for otherwise refractory conditions. Future research should focus on large-scale randomized controlled trials and the development of IL-6 inhibitors capable of crossing the BBB to enhance CNS-specific efficacy. Cost-related accessibility also remains a major challenge for broader clinical application.
    Keywords:  Interleukin-6; neuroinflammation; satralizumab; tocilizumab
    DOI:  https://doi.org/10.29399/npa.29355
  64. Mult Scler. 2026 Aug 13. 13524585261471330
       BACKGROUND: Juxtacortical paramagnetic rims (JPRs) have emerged as potential biomarkers of cortical pathology in multiple sclerosis (MS), yet their susceptibility characteristics and clinical significance remain unclear.
    OBJECTIVES: To characterize the heterogeneity of cortical lesions (CLs), with a particular focus on JPRs and clinical relevance.
    METHODS: Sixty-four patients underwent 3T magnetic resonance imaging (MRI), including structural imaging, multi-echo gradient echo, and Magnetic Resonance Image Compilation (MAGiC) sequences. Paramagnetic (χpara) and diamagnetic (χdia) maps were reconstructed using subvoxel quantitative susceptibility mapping. CLs were identified, and those with JPRs were defined as JPR-associated CLs. Susceptibility metrics were compared across lesion subtypes and correlated with clinical and imaging measures.
    RESULTS: Among 499 CLs, 15% were JPR-associated CLs, which exhibited elevated χpara measurements and reduced χdia measurements. Patients with JPRs had a higher number of paramagnetic rim lesions (95% CI [2.445, 4.738], p < 0.001), annualized relapse rates (95% CI [0.130, 0.297], p < 0.001), and lower digit span test scores (95% CI [-2.504, -0.473], p = 0.004). The absolute χpara and χdia values in all CLs were correlated with longer disease duration (r = -0.461, p = 0.001; r = 0.457, p = 0.001).
    CONCLUSION: JPRs are a characteristic feature of CLs associated with greater clinical and radiological burden in MS.
    Keywords:  Multiple sclerosis; cortical lesion; juxtacortical paramagnetic rims; quantitative susceptibility mapping
    DOI:  https://doi.org/10.1177/13524585261471330
  65. Neuropathol Appl Neurobiol. 2026 Aug;52(4): e70096
      TAR DNA-binding protein 43 (TDP-43) inclusions are defining pathological features of frontotemporal lobar degeneration (FTLD) but are also often observed in Alzheimer's disease (AD) and primary age-related tauopathy (PART). TDP-43 in AD is either associated with cognitive impairment or a protective-life prolonging impact, and yet the localization, cellular and fragment characteristics of TDP-43 need to be determined. We investigated the relationships between TDP-43 volumetric inclusion burden in low likelihood AD (lAD) and definite PART by immunostaining against phosphorylated TDP-43 (pTDP-43), TDP-43 C terminal (TDP-C) and TDP-43 N-terminal (TDP-N) fragments combined with 3D confocal imaging taken from eight regions: amygdala (basolateral [amygdala-BL] and centromedial amygdala [amygdala-CM]), the hippocampus (Cornu Ammonis [CA]-1, CA2/3, CA4, dentate gyrus [DG] and subiculum [SUB]) and entorhinal cortex (ERC) and artificial intelligence (AI)-based segmentation via object recognition, reconstruction and quantification. We found amygdala-CM in lAD and PART to have the overall greatest burden of pTDP-43 whereas TDP-N burden in amygdala-BL of PART cases was greater than other TDP-43 fragments. There was no difference in TDP-43 burden in hippocampal subfields in PART. However, CA2/3 region showed greater pTDP-43 burden while TDP-N stood out in DG and SUB. Multiple comparisons among the groups revealed that TDP-C was the only fragment showing differences among PART and lAD in CA2/3, DG and SUB regions. Overall, unbiased AI-based volumetric burden analysis pipeline demonstrated unique fragment aggregation patterns in the neurodegenerative processes of PART and AD.
    Keywords:  Alzheimer's disease (AD); TAR DNA‐binding protein 43 (TDP‐43); TDP‐43 C terminal (TDP‐C); TDP‐43 N terminal (TDP‐N); artificial intelligence (AI); pTDP‐43; primary age‐related tauopathy (PART)
    DOI:  https://doi.org/10.1111/nan.70096
  66. Front Neurosci. 2026 ;20 1875642
      Neurological and neuro-oncological brain disorders like Alzheimer's disease (AD), Parkinson's disease (PD), and brain tumors are challenging to diagnose due to overlapping symptoms and the limitations of conventional imaging techniques. Magnetic resonance imaging (MRI) with convolutional neural networks (CNNs) has emerged as a powerful approach, enabling automated and high-precision detection and staging. This review critically integrates recent developments in CNN architectures, such as hybrid models, attention mechanisms, and 3D CNNs for MRI-based diagnosis of these disorders. It further examines preprocessing methods, datasets, and performance metrics across studies, with emphasis on innovations such as transformer-based models and lightweight architectures. While CNNs show impressive accuracy, issues remain in generalizability, interpretability, and clinical integration. This review highlights the need for multimodal data fusion, explainable artificial intelligence, and real-world validation to narrow the gap between research and clinical practice. By defining future directions, this review aims to guide the development of robust, scalable neurodiagnostic systems for early intervention and better patient outcomes.
    Keywords:  Alzheimer's disease; Parkinson's disease; brain disorders; brain tumor; convolutional neural networks; magnetic resonance imaging
    DOI:  https://doi.org/10.3389/fnins.2026.1875642
  67. Front Immunol. 2026 ;17 1813928
      Powassan virus (POWV) is a tick-borne Orthoflavivirus transmitted by Ixodes tick species. POWV causes fatal encephalitis in approximately 10-30% of neurological cases, and long-lasting neurological sequelae in approximately 50% of survivors. POWV entry into the central nervous system (CNS) is an important event in determining clinical outcome. In this study, we evaluated viral replication kinetics, neuropathology, as well as host immune response following POWV infection in C57BL/6J (WT) mice. Our data showed that infection with POWV by all inoculation routes, including the intravenous, intraperitoneal, intracranial and subcutaneous, led to severe neuroinvasive disease. We showed that POWV effectively replicates in WT mice, where replication and dissemination resulted in peripheral and neurotropic phases. Viral neuroinvasion correlated with severe neuropathological alterations as well as enhanced blood-brain barrier permeability. Next, we used transcriptomics to compare the induction of effector pathways in the brain during the acute and late stages of POWV infection in mice. At all examined time points, we found several dysregulated genes including genes associated with interferon signaling, neuroinflammation and cell death signaling. We detected significant increase in the protein levels of markers involved in neuroinflammation in POWV-infected brains. Immunofluorescence analyses further validated the transcriptomic findings and demonstrated increased activation of microglia (IBA1) and astrocytes (GFAP), infiltration of peripheral immune cells (CD45), and elevated neuronal cell death (TUNEL) in POWV-infected brains. Increased protein expression of caspase-3 and p16 further indicated activation of apoptotic and senescence-associated pathways. Interestingly, we detected viral RNA and found evidence of neuroinflammation persistence, albeit at lower levels, in mice that survived the acute POWV encephalitis phase. Overall, this study provides a comprehensive understanding of the pathogenic events that occur during the acute and late stages of POWV infection in mice.
    Keywords:  RNA sequencing; blood brain barrier; encephalitis; neuroinflammation; orthoflaviviruses; powassan virus
    DOI:  https://doi.org/10.3389/fimmu.2026.1813928
  68. Int Rev Neurobiol. 2026 ;pii: S0074-7742(26)00045-0. [Epub ahead of print]188 231-271
      Alzheimer's disease and Parkinson's disease are increasingly recognized as disorders marked not only by protein aggregation but by a sustained failure of brain energy metabolism. Years before overt cognitive or motor symptoms emerge, neurons begin to experience impaired glucose utilization, mitochondrial dysfunction, and declining ATP production. Because the brain is highly energy-dependent, even subtle metabolic disturbances can disrupt synaptic function, impair neuronal signaling, and trigger oxidative stress. As mitochondrial efficiency declines, reactive oxygen species accumulate, inflammatory pathways become chronically activated, and damaged cellular components are insufficiently cleared, creating a vicious cycle that accelerates neurodegeneration. Conventional metabolic therapies, including antioxidants and mitochondrial cofactors, have produced limited clinical success, largely due to poor penetration across the blood-brain barrier and lack of specificity for vulnerable neuronal populations and intracellular targets such as mitochondria. Nanotechnology introduces a more precise therapeutic strategy by enabling targeted delivery of metabolic modulators directly to the brain. Engineered nanocarriers can be designed to cross biological barriers, enhance drug stability, and release therapeutic agents in a controlled or stimuli-responsive manner within diseased regions. Advanced systems including polymeric nanoparticles, lipid-based carriers, intranasal nano formulations, biomimetic vesicles, and catalytic nanozymes offer the ability to simultaneously modulate oxidative stress, restore mitochondrial function, and regulate neuroinflammation. By integrating delivery precision with metabolic intervention, neuro-nanomedicine shifts the therapeutic focus from symptomatic management toward addressing the underlying bioenergetic crisis. Although challenges remain in safety validation, scalability, and clinical translation, targeted nanotherapeutic strategies hold significant promise for transforming the treatment landscape of these debilitating neurodegenerative disorders.
    Keywords:  Alzheimer’s disease; Bioenergetics; Nanotechnology; Parkinson’s disease
    DOI:  https://doi.org/10.1016/bs.irn.2026.05.016
  69. Alzheimers Dement (N Y). 2026 Jul-Sep;12(3):12(3): e70308
       INTRODUCTION: Cerebral microbleeds are commonly observed on susceptibility-based magnetic resonance imaging (MRI) in Alzheimer's disease (AD) and are often interpreted as markers of small-vessel disease. However, how microbleed occurrence differs between amyloid-associated vascular pathology and non-amyloid vascular conditions remains incompletely understood. In this study, we performed a comparative analysis between an amyloidosis mouse model and a non-amyloid arteriopathy cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) model to assess whether microbleed occurrence differs across these distinct vascular contexts.
    METHODS: Multimodal in vivo MRI at 11.7T, including gradient echo (GRE), spin echo, and diffusion-weighted imaging, was performed in 5xFAD mice and a CADASIL mouse model across 9 to 20 months of age. Ex vivo high-resolution GRE imaging and Prussian blue staining were used to validate microbleeds. Quantitative analyses focused on microbleed counts, parenchymal and cerebrospinal fluid volumes, and regional apparent diffusion coefficient (ADC). In addition, blood-brain barrier (BBB) integrity was assessed in the CADASIL mice.
    RESULTS: Both in vivo and ex vivo GRE MRI consistently revealed hippocampal microbleeds in 5xFAD mice, whereas no microbleeds were detected in CADASIL mice at any examined age. Microbleeds in 5xFAD mice occurred in the absence of brain atrophy or ventricular enlargement. ADC elevation was observed selectively in the midbrain of 5xFAD mice but not in other regions or in the CADASIL cohort. BBB permeability remained normal in CADASIL mice, indicating preserved vascular barrier integrity despite vascular smooth muscle cell loss.
    DISCUSSION: Cerebral microbleeds emerged selectively in the amyloid model and were absent in a non-amyloid arteriopathy driven by vascular smooth muscle cell degeneration, suggesting that microbleed occurrence may depend on the underlying pathology. These findings show consistency with the possibility that cerebral microbleeds may reflect disease-associated vascular conditions, refining their interpretation as translational MRI biomarkers in AD.
    Keywords:  Alzheimer's disease; blood‐brain barrier; brain atrophy; microbleed; small‐vessel disease; susceptibility‐based imaging; ventricular enlargement
    DOI:  https://doi.org/10.1002/trc2.70308
  70. Bioact Mater. 2027 Jan;67 192-212
      The blood-brain barrier (BBB) remains a major biological obstacle limiting the effective delivery of therapeutics for central nervous system (CNS) disorders. Although conventional drug delivery approaches have achieved continuous advances, their clinical translation is frequently restricted by limited brain penetration, insufficient target specificity, and systemic adverse effects. Exosomes, endogenous extracellular vesicles (EVs) involved in intercellular communication, have emerged as promising candidates for CNS therapeutic delivery owing to their favorable biocompatibility, relatively low immunogenicity, and potential ability to interact with biological barriers. In this review, we first summarize the structural characteristics of the BBB and the mechanisms underlying exosome-BBB interactions and transport. We then discuss current strategies for exosome isolation, characterization, and engineering, highlighting how these approaches influence therapeutic performance and translational feasibility. Subsequently, we analyze recent advances in exosome-based therapies for major CNS disorders, including neurodegenerative diseases, brain tumors, and ischemic stroke, with emphasis on how distinct pathological environments guide the design of exosome cargos, targeting strategies, and functional modifications. Finally, we discuss key challenges associated with clinical translation, including manufacturing standardization, pharmacokinetic evaluation, safety assessment, and regulatory considerations. This review provides a pathology-driven and engineering-guided perspective for understanding the rational design and future development of exosome-based therapeutics for CNS disorders.
    Keywords:  Blood–brain barrier; Central nervous system disorders; Clinical translation; Engineering strategies; Exosomes
    DOI:  https://doi.org/10.1016/j.bioactmat.2026.07.055
  71. Curr Neuropharmacol. 2026 Jul 28.
       OBJECTIVE: Parkinson's disease (PD) is a progressive neurodegenerative disorder primarily involving the loss of dopaminergic neurons and pathological α-synuclein (α-syn) aggregation. A pivotal feature of PD pathogenesis is the dual role of microglia, which shifts from maintaining neuronal homeostasis to driving neuroinflammation and neurodegeneration. The mechanisms underlying this functional transition and its consequences for disease progression require a comprehensive synthesis.
    METHODS: A structured PubMed search was performed using the keywords "Parkinson's disease", "microglia", "neuroinflammation", "α-synuclein", "polarization", "tunneling nanotubes (TNTs)", "NF-κB", and "NLRP3". Relevant combinations of these terms were also used. A total of 2952 records were retrieved up to December 2025. Of these, 147 studies were included based on relevance to microglial polarization, neuroinflammation, α-syn-related pathology, and intercellular communication mechanisms.
    RESULTS: In early PD stages, microglia exert neuroprotective effects by transferring excess neuronal α-syn via TNTs, delivering healthy mitochondria, and clearing α-syn through autophagy. With disease progression, accumulated α-syn promotes microglial polarization toward the M1 phenotype. This shift activates TLR2/4, TREM2, MHCII, and RAGE receptors, triggering NF-κB/NLRP3 pathways, releasing pro-inflammatory cytokines, and generating NOX2-derived ROS. The resulting neuroinflammatory cascade not only damages dopaminergic neurons directly but also disrupts astrocyte function and blood-brain barrier integrity, creating a self-perpetuating cycle of inflammation and neurodegeneration.
    DISCUSSION: These findings support dysregulated microglial polarization as an important component of PD pathobiology, but the available evidence remains weighted toward preclinical models. Future work should better define the timing, heterogeneity, and clinical measurability of microglial state transitions before microglia-targeted strategies can be translated with confidence.
    CONCLUSION: Microglial polarization may represent a potential therapeutic direction in Parkinson's disease, although further mechanistic and clinical validation and more precise biomarker definition remain necessary.
    Keywords:  Parkinson's disease; ROS; microglia; neuroinflammation; α-syn
    DOI:  https://doi.org/10.2174/011570159X473857260708102204
  72. Cureus. 2026 Jul;18(7): e112325
      Artificial intelligence (AI) is rapidly transforming research in neurodegenerative diseases, yet its clinical translation remains limited. We conducted a structured literature search across Google Scholar, PubMed, Scopus, and Web of Science, screening studies published between 2015 and April 2026 that applied machine learning (ML), deep learning (DL), and multimodal data integration to neuroimaging, biomarkers, and digital phenotyping. Our analysis revealed that AI models demonstrate strong potential for differentiating disease subtypes, predicting progression, and enhancing diagnostic accuracy, with notable advances in neuroimaging interpretation, fluid biomarker analysis, and wearable sensor data. In Parkinson's disease (PD), digital phenotyping through gait, speech, and handwriting analysis has enabled sensitive monitoring, while in Alzheimer's disease (AD), AI applied to imaging and plasma biomarkers has improved risk stratification. Despite these advances, barriers such as dataset heterogeneity, label noise, lack of external validation, and ethical concerns regarding bias, transparency, and patient trust persist. We conclude that while AI holds promise to revolutionize the care of PD and AD, real-world adoption requires multicenter validation, standardized reporting frameworks, regulatory guidance, and interdisciplinary collaboration, alongside prospective trials that embed AI tools into clinical workflows to ensure safety, equity, and effectiveness.
    Keywords:  alzheimer's disease (ad); artificial intelligence; biomarkers; deep learning; digital phenotyping; ethics; machine learning; neurodegenerative diseases; neuroimaging; parkinson' s disease
    DOI:  https://doi.org/10.7759/cureus.112325
  73. Clin Lab. 2026 Aug 01. 72(8):
       BACKGROUND: Lipid metabolism plays an important role in neurodegenerative diseases, including Parkinson's disease (PD). However, the relationship between lipid profiles and excessive daytime sleepiness (EDS) remains unclear. This study aimed to explore the relationship between lipid parameters and EDS in PD patients, especially focusing on gender differences.
    METHODS: A total of 176 PD patients were included in this study, and clinical data was collected. The Epworth Sleepiness Scale (ESS) was used to classify patients into PD EDS (ESS ≥ 8) and PD non-EDS (ESS < 8) groups. Univariate and multivariate analyses, along with receiver operating characteristic (ROC) analyses, were performed to detect potential biomarkers for EDS in PD.
    RESULTS: In male PD patients, univariate analysis indicated an association between disease duration, Hoehn-Yahr (H-Y) stage, and lipid parameters (total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C)) and EDS. Multivariate analysis identified TC and HDL-C as significant predictors, especially HDL-C. The TC/HDL-C ratio (AUC = 0.745) and non-HDL-C (defined as TC - HDL-C, AUC = 0.691) exhibited high predictive ability for EDS. Female PD patients, in contrast, showed no significant link between lipid parameters and EDS. Instead, motor dysfunction (UPDRS score) and psychological factors (HAMD/HAMA scores) were the main predictors of EDS in females.
    CONCLUSIONS: Research findings indicate a significant gender difference in the factors influencing EDS in PD patients. In male PD patients, lipid metabolism disorders (elevated TC, reduced HDL-C) predict EDS, with TC/ HDL-C and non-HDL-C as potential biomarkers. In female PD patients, motor and psychological factors primarily contribute to the risk of EDS.
    DOI:  https://doi.org/10.7754/Clin.Lab.2025.250820
  74. Ageing Res Rev. 2026 Aug 08. pii: S1568-1637(26)00283-7. [Epub ahead of print]121 103291
      Central nervous system (CNS) disorders are fundamentally linked to metabolic dysregulation within immune and glial cells. This review provides a systematic synthesis of immunometabolic reprogramming-encompassing glucose, lipid, and amino acid metabolism, and oxidative phosphorylation-in CNS-resident microglia, immunomodulatory astrocytes, and peripherally infiltrating immune cells (T cells, B cells, and neutrophils) across Alzheimer's disease, Parkinson's disease, multiple sclerosis, and ischemic stroke. Critically, rather than presenting all reported metabolic alterations as equivalently established, we introduce an evidence-transparency framework that systematically distinguishes the nature of supporting data-ranging from direct metabolic flux measurements (Seahorse, isotope tracing, lipidomics) and molecular correlates, to genetic/pharmacological perturbations, human tissue validation, and model-specific observations-enabling readers to independently assess the strength of each major conclusion. We further delineate aging as an active analytical dimension, demonstrating how age-related changes in mitochondrial quality control, lipid handling, redox buffering, and glial-immune crosstalk establish a permissive baseline that modifies disease-specific reprogramming trajectories. By integrating analyses of intercellular crosstalk, neuroinflammation, blood-brain barrier integrity, and oxidative stress, we illustrate both convergent and divergent metabolic mechanisms across diseases. Finally, we critically assess therapeutic strategies targeting immunometabolism, emphasizing shared translational obstacles including target selectivity, blood-brain barrier penetration, stage-dependent efficacy, and the inherent challenge of pathway pleiotropy. This review provides a conceptually grounded framework for interpreting immunometabolic evidence, navigating the gap between correlative findings and causal mechanisms, and guiding future hypothesis-driven therapeutic design for CNS disorders.
    Keywords:  Metabolic reprogramming; central nervous system disorders; immune cells; immunometabolism; neuroinflammation
    DOI:  https://doi.org/10.1016/j.arr.2026.103291
  75. AJNR Am J Neuroradiol. 2026 Aug 11. pii: ajnr.A9579. [Epub ahead of print]
       OBJECTIVE: Magnetic resonance imaging (MRI) is central to tumor localization in Cushing disease (CD), and patients with clearly visualized pituitary adenomas experience superior surgical outcomes compared to those with MRI-negative or equivocal disease. With continued advances in MR acquisition and post-processing, subtle signal abnormalities may be increasingly labeled as definite tumors rather than acknowledged as uncertain findings, potentially increasing the risk of inaccurate localization and unnecessary exploration. In this study, we aimed to illustrate this diagnostic challenge and propose a standardized framework for communicating MR imaging confidence to better guide surgical planning and multidisciplinary decision-making.
    METHODS: We conducted a retrospective cohort study of 14 patients with operatively confirmed tumors identified by dynamic photon-counting CTA who had indeterminate MR findings. All MRI cases were independently reviewed by three board-certified neuroradiologists who were blinded to the true location of the adenomas and asked to identify, from the MRIs, where the pituitary adenomas were most likely located and with what confidence. The goal of this exercise was to understand what variance and certainty exist in difficult cases, MR indeterminate cases.
    RESULTS: Interrater agreement for MRI interpretations was overall fair (mean weighted κ = 0.22), with moderate agreement between two readers (κ = 0.48) but only slight agreement involving the third reader (κ = 0.06-0.11), demonstrating poor concordance even among highly experienced neuroradiologists. All neuroradiologists agreed (100%) that a system to convey certainty would be helpful to include in the MR report.
    CONCLUSIONS: Interpretation of MR imaging for pituitary microadenomas in CD can be inherently difficult, and the resulting interrater variability may contribute to differing impressions of lesion location. These discrepancies can, in turn, affect surgical or radiation planning. Communicating the level of diagnostic confidence may help alert treating clinicians when broader exploration or additional imaging could improve treatment outcomes.
    DOI:  https://doi.org/10.3174/ajnr.A9579