Underlying Diseases in a Patient with Upper Limb Clumsiness Suspected of Corticobasal Degeneration
Objective: This study aims to review the case of a patient with suspected corticobasal syndrome (CBS) who presented with upper limb clumsiness, and to discuss…PET and Clinical Evidence for Neuroprotective Effects of KM-819 on MSA
Objective: To assess the effect of KM-819 on the progression of multiple system atrophy (MSA). Background: Parkinson’s brain is associated with increased expression of the…The Sedentary Index (SI) for Daily Life Activity Monitoring in Progressive Supranuclear Palsy (PSP)
Objective: To confirm the feasibility of daily life physical activity monitoring in PSP using a single activPAL sensor, and to examine preliminary associations between overall…Differentiating White-Matter Damage Patterns by Underlying Pathology in Corticobasal Syndrome
Objective: This study aims to describe the patterns of white-matter damage using diffusion tensor imaging (DTI) in individuals with Corticobasal Syndrome (CBS) and compare the…The Role of FGF14 GAA Repeat Expansions in Multiple System Atrophy: Frequency, Phenotypic Correlations, and Prognostic Implications
Objective: This study aimed to investigate the frequency of FGF14 GAA•TTC repeat expansion in clinically diagnosed and pathologically confirmed multiple system atrophy cases. Background: Partial…Unraveling the Genetic Architecture of Progressive Supranuclear Palsy in East Asians
Objective: We aim to elucidate the genetic architecture of progressive supranuclear palsy (PSP) in East Asians through whole-exome sequencing in a multi-center study in Taiwan.…ATH434 Slowed Disease Progression in a Phase 2 Study in Multiple System Atrophy
Objective: Evaluate the efficacy and safety of ATH434 treatment in individuals with MSA Background: Multiple system atrophy (MSA) is a rapidly progressive neurodegenerative disorder without…Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series
Objective: The Powassan virus is a rare neurotropic, tick-borne arbovirus associated with meningoencephalitis. Despite the virus’s known predilection for the basal ganglia, there are no…Identification of Cerebrotendinous Xanthomatosis in Patients with Neurodegenerative Disorders from the Cincinnati Cohort Biomarker Program
Objective: To develop an algorithm for identifying patients with cerebrotendinous xanthomatosis (CTX) in a cohort of individuals with neurodegenerative disorders. Background: CTX is a rare…Phenotypic Variability Across Four Generations in a Family with CACNA1A Mutation
Objective: Our objective is to describe phenotypic variability across four generations in a family with a specific CACNA1A mutation. Background: CACNA1A is a gene located…
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