Effectiveness of Intensive Speech Treatment for Friedreich’s Ataxia
Objective: 1. Test feasibility of providing online intensive speech treatment to people with Friedreich’s Ataxia (FA)2. Compare benefits of two treatment targets (vocal loudness-LSVT LOUD;…Pleozymes, A Multifunctional Nanozyme for Targeting Metabolic Deficits in Friedreich’s Ataxia
Objective: Mitochondrial dysfunction in Friedreich’s Ataxia (FRDA) results from GAA repeat expansion in the FXN gene, reducing frataxin levels thus disrupting iron-sulfur clusters essential for…A 37 years-old man with Epilepsy and Progressive Autoimmune Ataxia
Objective: Describe a young patient with medial past history of Epilepsy who started with progressive symptoms of imbalance, vertigo, nausea, oscillopsy and recurrence of seizures.…Effects of an Intensive Multidisciplinary Rehabilitation Program on Patients with Spinocerebellar Ataxia
Objective: To evaluate the effectiveness of an intensive multidisciplinary rehabilitation program in patients with spinocerebellar ataxia. Background: Spinocerebellar ataxias (SCAs) cause significant motor impairment, affecting…A Case Report of Two Affected Siblings with Spinocerebellar Ataxia Type 1
Objective: To present a case of two affected siblings with Spinocerebellar ataxia type 1 Background: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative…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…
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