Educational Innovation of Cerebellum and Ataxia Curriculum for Neurology Residents
Objective: New education method with resident as educator supervised by movement specialists to improve the knowledge and clinical skills of neurology residents in diagnosing and…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…Stroke, Chronic Ataxia and Tremor in a Pediatric Patient with c.2137C>A Genetic Variant in CACNA1A
Objective: To describe a pediatric case of chronic non-progressive ataxia, nystagmus, kinetic tremor, refractory epilepsy, and arterial ischemic stroke (AIS) associated with a CACNA1A c.2137C>A…Antisense Oligonucleotide Treatment in Ataxia-Telangiectasia
Objective: Describe results of an antisense oligonucleotide (ASO) treatment trial in a patient with ataxia-telangiectasia (AT). Background: AT is a neurodegenerative, incurable disease of children…Ataxia in PBC: The Overlooked Role of Fat-Soluble Vitamin Deficiency
Objective: To describe the investigation of ataxia in a patient with primary biliary cholangitis (PBC) despite ursodeoxycholic acid (UDCA) treatment. Background: PBC is an autoimmune…A Clinical Overlap Presentation of Episodic Ataxia Type 2 and Periodic Paralysis with a Novel Mutation in CACNA1A
Objective: To describe a case of episodic ataxia type 2 (EA2) with features of periodic paralysis (PP) associated with a novel mutation in CACNA1A. Background:…Feasibility and Preliminary Efficacy of a Pilot Telehealth Physical Activity Intervention in Degenerative Cerebellar Disease (Engage-Ataxia)
Objective: This study evaluated the feasibility and acceptability of the Engage intervention in people with degenerative cerebellar disorders (DCD). Background: Physical activity (PA) can be…Safety and Efficacy of Vatiquinone Treatment in Friedreich Ataxia Patients from MOVE-FA: a Phase 3, Double-blind, Placebo-controlled Trial
Objective: Describe the results of vatiquinone from MOVE-FA (NCT04577352), the 72-week placebo-controlled phase 3 study of patients with Friedreich Ataxia (FA). Background: FA, the most…Improvement in Upright Stability subscale of mFARS with Vatiquinone Treatment in MOVE-FA: a Phase 3, Double-blind, Placebo-controlled Trial
Objective: Describe the results of vatiquinone on the Upright Stability Subscale (USS) from MOVE-FA (NCT04577352), the 72-week placebo-controlled phase 3 study of patients with Friedreich…Deep Brain Stimulation of bilateral ventral intermediate nucleus in a patient with spinocerebellar ataxia type 12
Objective: To treat the medication-resistant tremor of SCA12 by Deep brain stimulation (DBS) Background: Action tremor might be the most prominent feature of SCA12 patient…
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