Design and Outcome Measures of BRAVE, a Phase 3 Study of Omaveloxolone in Pediatric Patients With Friedreich Ataxia
Objective: This phase 3 randomized controlled trial will assess the efficacy and safety of omaveloxolone in children aged 2 to <16 years. Background: Omaveloxolone is…POLG2 Variant Reclassification Reveals Diagnosis in Adult with MSA-C Phenotype
Objective: (1) To emphasize the critical role of genetic evaluation in adult-onset movement disorders (2) to demonstrate that POLG2-related disorders should be considered in the…Brain Target Engagement and Pharmacokinetic-Enzyme Occupancy (PK-EO) Relationship of FNP-223: A Novel Oral OGA Inhibitor for Progressive Supranuclear Palsy – Phase 1 PET Study
Objective: To determine the brain O-GlcNAcase (OGA) occupancy, following a single oral dose of FNP-223 (formerly ASN90) and to determine PK-EO relationship. Background: Preclinical evidence…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…The Impact of Friedreich Ataxia Progression on Mobility
Objective: To assess the impact of Friedreich ataxia (FA) on mobility at different modified Friedreich Ataxia Rating Scale (mFARS) ranges. Background: FA is an autosomal…Alpha Synuclein Seeding Activity Drives Disease Heterogeneity in an Animal Model of Multiple System Atrophy
Objective: To examine the impact of multiple system atrophy (MSA) brain-derived alpha synuclein (αSyn) with diverse seeding activities in an inoculation-based animal model. Background: We…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…Carbidopa/levodopa related hypotension in patients with alpha-synucleinopathies
Objective: Evaluate blood pressure response to levodopa/carbidopa in patients with synucleinopathies undergone to autonomic testing. Background: Carbidopa/levodopa is the mainstay treatment of patients with synucleinopathies,…Expanding the Clinical Spectrum of Fejerman Syndrome: Insights from Video EEG and Long-Term Follow-Up
Objective: We review the clinical spectrum of infants diagnosed with Fejerman syndrome, provide detailed phenomenology through video review and long-term outcomes Background: First described by…Bulbar Symptoms Precede Diagnosis in Early-Onset, but not in Typical- to Late-Onset Friedreich Ataxia: Real-World Data From Medical Claims
Objective: To determine the age at onset of bulbar symptoms in patients with Friedreich ataxia (FA) based on real-world data from US medical claims. Background:…
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