Spinocerebellar Ataxia Type 40 (SCA-40) with a Novel Mutation in an Indian Female: A Case Report
Objective: To report the first Indian patient with SCA 40 who presented in the fifth decade with a novel missense mutation (c.1291C>T, p.His431Tyr), expanding the…Beyond the Classic Triad: An Unusual Phenomenology of Parkinsonism in a Patient with Superficial Siderosis (SS)
Objective: To highlight the phenomenology in a complex case of superficial siderosis (SS) presenting with hearing loss, ataxia, and parkinsonism Background: SS is a rare…Long-Term Effectiveness and Tolerability of Vatiquinone in an Adult Friedreich’s Ataxia Population
Objective: To assess the long-term effect of vatiquinone (EPI-743) on disease progression in adults with Friedreich’s ataxia (FA) from Study 006, compared with a matched…Opsoclonus-Myoclonus Ataxia plus Demyelinating Neuropathy Syndrome in an uncommon type of Prostate Cancer, a Case Report
Objective: To present a unique case of adult-onset opsoclonus-myoclonus ataxia plus demyelinating neuropathy syndrome in a patient with large cell neuroendocrine prostate carcinoma with isolated…Case Report: Effect of DBS in a Patient with Cerebellar Atrophy
Objective: The aim of this study is to present the result of Deep Brain Stimulation in GPi (Globus pallidus internus) and VA (Ventral anterior nucleus of…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…
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