A Quantitative Systems Disease Model for Progressive Supranuclear Palsy.
Objective: Developing a computer model integrating the PSP pathology to support clinical trial for new disease-modifying therapies Background: Progressive Supranuclear Palsy is a fast progressing…Interlaboratory cross-validation of CSF α-synuclein seeding aggregation assay for parkinsonisms
Objective: To evaluate CSF α-syn-SAA interlaboratory reproducibility in diagnosing Parkinson´s Disease (PD) and atypical parkinsonisms as well as interrogate the effect of changes in lot…Clinical and Dopaminergic Characteristics of MSA-C Patients with Predominant Cerebellar Asymmetry
Objective: To identify multiple system atrophy–cerebellar type (MSA-C) patients with marked cerebellar asymmetry and compare their features with symmetrically affected patients. Background: While asymmetry is…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…Balance assessment and effect of virtual reality in Hereditary Spastic Paraplegia
Objective: This study aims to investigate the balance and benefits of Vestibular Rehabilitation (VR) with virtual reality (VRi) in individuals with HSP Background: The HSP…
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