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.…The Unlikely Treatable A Case of Ataxia
Objective: To present the first reported Colombian case in a patient presenting COQ8A-ataxia with bilateral palpebral ptosis, who had a favorable response to CoQ10 supplementation…Frequency and Phenotype of GAA-FGF14 Disease in Bilateral Vestibulopathy Syndromes: Insights from Repeat Expansion Carriers, Including a Dual Diagnosis with RFC1-Related CANVAS
Objective: To study the frequency and phenotype of GAA-FGF14 expansions in a large cohort of patients with bilateral vestibulopathy (BVP) syndromes. Background: Intronic GAA repeat expansions in FGF14 cause spinocerebellar ataxia…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…Blood-based somatic CAG repeat expansion and clinical progression in Huntington’s disease patients from Western China
Objective: To investigate the association between blood-based somatic CAG repeat expansion ratio (SER) and clinical characteristics in Huntington’s disease (HD) patients from Western China. Background:…Cognitive Changes after bilateral Thalamic VIM DBS: A Single Center Experience
Objective: To determine post-surgical cognitive changes and their predictive factors after bilateral ventral intermediate nucleus (VIM) thalamic Deep Brain Stimulation (DBS) in people with essential…Outcomes of Focused Ultrasound Referrals at a Movement Disorders Center
Objective: High intensity focused ultrasound (HIFU) referrals to a multidisciplinary movement disorders center can come from many different sources. We aimed to evaluate referrals, based…Remission of Tardive Dyskinesia in Patients Receiving Long-Term Valbenazine Treatment
Objective: To assess a potential threshold for remission of tardive dyskinesia (TD) during treatment with once-daily valbenazine, a uniquely selective vesicular monoamine transporter 2 inhibitor.…Facial Synkinesis: Can It Have a Central Origin?
Objective: To describe a case of left facial synkinesis in a patient with a right middle cerebral artery stroke. Background: Facial synkinesis has been classically…Dance by Mammary: A Case of Paraneoplastic Chorea associated with Ductal Carcinoma in Situ
Objective: . Background: Paraneoplastic syndromes encompass a range of neurologic disorders triggered by an immune response to neoplasms, mediated by antibodies or cellular mechanisms. Paraneoplastic…
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