Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives
Objective: To identify and quantify the age-contingent impact of Friedreich’s Ataxia. Background: Friedreich's ataxia (FA) is a rare, inherited multisystem neurodegenerative disorder that primarily affects…Effects of a Six-Week Neurorehabilitation Program on Ataxia, Balance and Gait in a Patient with CANVAS Syndrome: A Case Report
Objective: This study aimed to examine the effects of a neurologic physiotherapy on ataxia, balance, and gait in a patient with cerebellar ataxia, neuropathy, and…Healthcare Utilization and Economic Burden in Patients with Friedreich’s Ataxia: Baseline Results of the PROFA Study
Objective: The study aimed to investigate healthcare utilization, costs, and the distribution of costs across ambulation levels among patients with Friedreich's ataxia. Background: Friedreich's ataxia…An interesting case of progressive vision loss and unusual gait
Objective: To highlight the importance of vision diminution and improvement with drugs a clue for treatable disorder like abetalipoproteinemia. Background: A 22 years old male…Omaveloxolone in a real-world setting: implications in Friedreich Ataxia beyond the classic study population
Objective: The aim was to monitor safety and efficacy of omaveloxolone treatment in a single center real life cohort, focusing on Friedreich Ataxia (FRDA) patients…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…
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