Spinocerebellar Ataxia 17 Presenting with Childhood Seizures and Mesial Temporal Lobe Sclerosis
Objective: To report an unusual phenotype of spinocerebellar ataxia 17 (SCA17) with childhood onset epilepsy evolving into asymmetric motor impairment with features of dystonia and…Spinocerebellar Ataxia Type 7: First Report of Clinical and Molecular Findings of Two Family in Senegal – West Africa (Video Cases)
Objective: Describe the clinical and molecular findings in two families originating from Senegal. Background: Spinocerebellar ataxia type 7 is an inherited neurodegenerative disease caused by…Global Genetic Ataxia Resource: An MDSGene Online Platform
Objective: To create a comprehensive global resource integrating epidemiological, phenotypic, and diagnostic data on genetic ataxias through an online platform. Background: Genetic ataxias exhibit variable…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…Effects of transcutaneous periodic vibratory stimulation on gait and balance function in Spinocerebellar degeneration -a pilot study
Objective: The aim of this study is to clarify the efficacy of transcutaneous periodic vibrational stimulation(TPVS)on gait and balance function in patients with spinocerebellar degeneration…Patient Experience and Satisfaction With Once-Daily Deutetrabenazine Extended-Release Tablets for Treatment of Huntington Disease-Related Chorea
Objective: Objectives of this study were to explore patient-reported ease of use, effectiveness, and satisfaction during real-world use of once-daily (QD) deutetrabenazine extended-release tablets in…SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia
Objective: We present two cases of late-onset progressive and episodic cerebellar ataxia with prolonged courses of complex diagnostic work-up and management prior to genetic Spinocerebellar…Clinical case of Sporadic adult-onset ataxia
Objective: To describe a clinical case of Sporadic adult-onset ataxia(SAOA) Background: Sporadic ataxia in adults is a heterogeneous neurological condition characterized by progressive impairment of…Co-occurrence of Spinal Muscular Atrophy Type 2 and Huntington’s Disease
Objective: To describe a unique case of co-occurring SMA2 and HD in a patient. Background: Huntington’s Disease (HD) is an autosomal dominant neurodegenerative disorder caused…“Parkinson Positivos”: A Collaborative Effort to Educate and Empower the Spanish-speaking community.
Objective: To create a culturally sensitive educational resource that (1) centers the voices of the Spanish-speaking community, (2) dispels misconceptions and breaks down barriers to…
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