193 papers
This study provides the first comprehensive neuroimaging characterization of NGLY1 Deficiency, revealing age-dependent patterns of subcortical and cortical structural abnormalities that correlate with specific clinical phenotypes and may serve as biomarkers for disease progression.
This nationwide descriptive study of 7,856 Japanese patients with Wernicke encephalopathy from 2010 to 2023 reveals a significant shift toward high-dose thiamine treatment over time, yet highlights that despite early intervention and low in-hospital mortality, a substantial proportion of patients still experience functional impairment at discharge, underscoring the need for further research on optimal dosing and prevention.
This study demonstrates that the VeraBIND Tau assay, a novel functional blood-based test detecting pathologically active tau seeding activity, outperforms existing pTau217 biomarkers in accurately identifying early-stage tau pathology and predicting cognitive decline in individuals before the onset of symptomatic Alzheimer's disease.
This study demonstrates that serial cerebrospinal fluid alpha-synuclein seed amplification assay results exhibit high intra-individual consistency over time across Parkinson's disease, prodromal, and healthy control participants in the Parkinson's Progression Marker Initiative.
This study identifies specific structural and functional connectomic signatures—characterized by enhanced connectivity to motor/sensory cortices and a precise lesion location at the VIM-VO-VC interface—that predict durable tremor control in Parkinson's disease patients undergoing MRgFUS thalamotomy, thereby supporting the development of network-guided targeting strategies.
This retrospective study provides evidence that active bilingualism serves as a cognitive reserve factor, significantly delaying the onset of symptoms in biomarker-confirmed Alzheimer's disease and related clinical stages.
This systematic review and meta-analysis of 2,611 patients indicates that aneurysm location (anterior vs. posterior circulation) does not independently influence mortality, functional recovery, hydrocephalus, or delayed cerebral ischemia following aSAH, with symptomatic cerebral vasospasm being the only significant location-specific difference and admission neurological grade emerging as the primary determinant of outcomes.
This study demonstrates that the reported predictive performance of plasma p-tau217 disease clocks for Alzheimer's disease symptom onset is largely an artifact of structural dependencies between baseline age and follow-up constraints, rather than a reflection of independent biomarker signal.
This study identifies *PTPN1* variants as a significant cause of Aicardi-Goutières syndrome, particularly characterized by later onset and reduced penetrance, while also linking these variants to a broader spectrum of autoinflammatory and autoimmune phenotypes.
This study of Autosomal Dominant Alzheimer's Disease demonstrates that core amyloid and tau abnormalities in cerebrospinal fluid precede inflammatory and glial responses, and that a multi-protein composite signature outperforms single biomarkers in predicting the estimated years to symptom onset.
This study demonstrates that intraindividual cognitive variability, specifically measured by the coefficient of variation, serves as a sensitive marker that distinguishes prodromal neuronal synuclein disease from healthy controls and independently predicts short-term progression to more advanced stages.
This resting-state fMRI study reveals that migraine patients, particularly those with chronic migraine, exhibit widespread reductions in brain entropy reflecting impaired neural adaptability, which are associated with greater clinical burden but show partial restoration during attacks through weakly chaotic dynamics in multisensory integration regions.
This multicentric study identified a cerebrospinal fluid proteomic signature comprising ten proteins that effectively distinguish multiple sclerosis from clinically isolated syndrome and predict short- to mid-term disease activity, offering new insights into pathophysiology and potential therapeutic targets.
NeuroFM is a disease-naive foundation model trained on synthetic healthy brain volumes that learns biologically grounded anatomical patterns to enable precise, individualized brain health profiling and future dementia risk prediction across diverse neuroscience domains without requiring diagnostic labels.
This study demonstrates that preoperative cerebrospinal fluid metabolomic profiles, particularly those reflecting redox balance, immune-metabolic signaling, and energy utilization, can serve as reliable biomarkers to predict neurological recovery following shunt surgery in patients with normal pressure hydrocephalus.
This paper introduces DBSgram, a multimodal framework that integrates subthalamic nucleus local field potentials and wearable kinematic data to enable objective, data-driven Deep Brain Stimulation programming for Parkinson's disease by visualizing the relationship between stimulation parameters, neural activity, and motor symptom improvement.
This study demonstrates that longitudinal analysis of urinary astrocyte-derived extracellular vesicles can non-invasively track real-time dynamics of brain GluN1 receptor concentrations in anti-NMDAR encephalitis, revealing both a treatment-associated decline and drug-induced oscillations that mirror cerebrospinal fluid changes.
This study utilized a longitudinal cohort of autosomal dominant Alzheimer's disease mutation carriers to identify a sequential cascade of nine plasma protein biomarkers that diverge from non-carriers between 26 and 6 years prior to expected symptom onset, offering a refined framework for staging presymptomatic disease and optimizing clinical trial design.
This study presents a rigorously validated, data-driven six-stage model that jointly characterizes the spatial progression of both amyloid and tau pathologies in Alzheimer's disease using a large multi-study PET imaging cohort, demonstrating strong associations with cognitive decline and offering a scalable framework for understanding disease heterogeneity.
The ACAP study is a multicenter, randomized controlled trial protocol designed to evaluate the efficacy and safety of combining argatroban with clopidogrel versus aspirin with clopidogrel for improving 90-day outcomes in patients with acute minor ischemic stroke presenting within 72 hours of onset.