Spinocerebellar Ataxia Type 17 First Reported Case in Northern Mexico
Objective: To report the first documented case of spinocerebellar ataxia type 17 (SCA17) in northern Mexico. Background: SCA17 is an autosomal dominant neurodegenerative disorder caused…Unusual presentation of POLR3A-associated leukodystrophy – two cases reported
Objective: Presentation of two patients with different clinical manifestations of a POLR3A-related leukodystrophy (NM_007055.4) Background: POLR3A related leukodystrophy is an autosomal recessive disease caused by…Natural history and epidemiological study of multiple system atrophy in Hokkaido: HoRC-MSA 2014-2025
Objective: To investigate epidemiological information of multiple system atrophy (MSA) patients in Hokkaido, Japan by using the registry data from the Hokkaido Rare-disease Consortium for…Adult-onset ataxia with oculomotor apraxia type 4 with severe hypoalbuminemia, generalized edema and obesity
Objective: To report a 45-years-old Swedish man born to non-consanguineous parents affected by an adult-onset syndrome that included insidious pain at onset, hypoalbuminemia, edema, severe…Educational Innovation of Cerebellum and Ataxia Curriculum for Neurology Residents
Objective: New education method with resident as educator supervised by movement specialists to improve the knowledge and clinical skills of neurology residents in diagnosing and…Characterizing the Patient Clinical Journey Before and After Diagnosis of Friedreich Ataxia and Differences by Age at Diagnosis
Objective: To characterize the patient journey through clinical specialties involved in the intermediate-to-late age at diagnosis of adult patients with Friedreich ataxia (FA) based on…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…Clinical Progression and Biomarkers in Spinocerebellar Ataxia Type 31, A Form Unique to and Common in Japanese.
Objective: The objective of this study is to find a useful clinical marker that reflect progression of spinocerebellar ataxia type 31 (SCA31). Background: SCA31 is…The Impact of Friedreich Ataxia Progression on Mobility
Objective: To assess the impact of Friedreich ataxia (FA) on mobility at different modified Friedreich Ataxia Rating Scale (mFARS) ranges. Background: FA is an autosomal…Digital balance and gait measures show promise to track progression of Friedreich’s ataxia
Objective: This study aimed to identify balance and gait measures sensitive to disease progression in a multicenter clinical trial of Friedreich Ataxia (FRDA). Background: The…
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