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…Predicting Disease Severity in Friedreich’s Ataxia through Wearable Monitoring and Machine Learning.
Objective: Develop and validate a wearable-based solution for tracking motor function in Friedreich ataxia (FRDA). Background: FRDA is an autosomal recessive neurodegenerative disorder causing progressive…Effects of Transpinal Magnetic Stimulation (TsMS) in Patients Diagnosed with Spinocerebellar Ataxia 3 (SCA 3)
Objective: Ataxia is a neurological condition characterized by impaired coordination, balance, and motor control. While physiotherapy remains a cornerstone in SCA 3 management, emerging therapies such…Phenomenology of Coenzyme Q10-deficiency Spinocerebellar Ataxia: Case Description Of Two Siblings And New Therapeutic Perspectives
Objective: To describe the phenomenology of SCAR9, caused by a homozygotic mutation in COQ8A gene, and to describe the positive effects of a holistic approach…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…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…
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