Seed amplification assay detects alpha-synuclein in cerebrospinal fluid in pre- and symptomatic autosomal dominant Alzheimer’s disease
Objective: To examine the ability to detect concurrent Lewy Body Disease via Lew Body pathology (LBP) in Autosomal Dominant Alzheimer’s Disease (ADAD) through detection of…Atypical Frontotemporal Dementia with Parkinsonism Linked to SQSTM1 Mutation A Clinicopathological Case Study
Objective: To describe the clinical, neuroimaging, and neuropathological features of a patient with frontotemporal dementia (FTD) and parkinsonism related to mutation in the SQSTM1 gene.…Natural history and epidemiological study of multiple system atrophy in Hokkaido: HoRC-MSA 2014-2025
Objective: To investigate epidemiological information of multiple system atrophy (MSA) patients in Hokkaido, Japan by using the registry data from the Hokkaido Rare-disease Consortium for…Assessing Disease Progression in MSA: Development of a Bayesian Progression Model
Objective: Develop a Bayesian progression model (BPM) for MSA that leverages individual-level data derived from long-term follow up and offers a clinically interpretable, slope-based primary…Quantitative Gait Evaluation in Multiple System Atrophy: Supervised versus Unsupervised Analysis
Objective: This study aims to compare gait parameters in real-world (RW) home settings with supervised clinical assessments on 6-minutes walking test (6MWT) in MSA patients…Association between Imaging Glymphatic Dysfunction Markers and Clinical Symptoms in Progressive Supranuclear Palsy
Objective: This study aims to explore possible glymphatic dysfunction using diffusion tensor image analysis along the perivascular space (DTI-ALPS) in patients with progressive supranuclear palsy…Oxidative stress in Progressive Supranuclear Palsy
Objective: The goal of the study is to evaluate the significance of oxidative stress in the examination and pathophysiology of Progressive Supranuclear Palsy (PSP). Additionally,…Exploring Cardiac Autonomic Dysfunction in Synucleinopathies with Parkinsonism Across Awake-Sleep Stages
Objective: To explore the differences in heart rate variability (HRV) across awake-sleep stages between patients with synucleinopathies and elderly controls without parkinsonism Background: A complex…Safety, Tolerability and Pharmacokinetics of a Novel Oral OGA Inhibitor (FNP-223) First-in-Human Phase 1 Study
Objective: To evaluate the safety, tolerability, and pharmacokinetics of FNP-223 (formerly ASN90) in healthy volunteers (HV). Background: Proteinopathies remain largely untreatable and novel therapies are…GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…
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