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:…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…4-Aminopyridine improves downbeat nystagmus in SCA27b: A case report
Objective: To assess objective clinical improvement in video-oculography in a patient with SCA27b on 4-aminopyridine (4-AP) treatment. Background: Spinocerebellar ataxia 27b (SCA27b; MIM 620174) is…Dentate Deep Brain Stimulation for Cerebellar Ataxia: Long Term Outcomes
Objective: To evaluate long-term results of Deep Brain Stimulation (DBS) targeting the dentate nucleus (DN) in patients with cerebellar ataxia Background: Cerebellar ataxia remains a…Ataxia and Gait Improvement in Relapsing-Remitting Multiple Sclerosis After Transcranial Magnetic Stimulation (TMS): A Case Study
Objective: To evaluate the effectiveness of Transcranial Magnetic Stimulation (TMS) in improving ataxia and gait in a patient with Relapsing-Remitting Multiple Sclerosis (RRMS). Background: Multiple…Evaluating Pharmacological Interventions for Friedreich Ataxia: A Network Meta-Analysis of Randomised Trials
Objective: To compare the clinical efficacy of different pharmacological agents in reduction of disease severity of Friedreich Ataxia. Background: Friedreich ataxia is a rare, inherited,…
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