2024
DOI: 10.1002/ana.27060
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Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)

Widad Abou Chaar,
Anirudh N. Eranki,
Hannah A. Stevens
et al.

Abstract: ObjectivesSpinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene has recently been recognized as a common cause of late‐onset hereditary cerebellar ataxia. Here we present the first report of this disease in the US population, characterizing its clinical manifestations, disease progression, pathological abnormalities, and response to 4‐aminopyridine in a cohort of 102 patients bearing GAA repeat expansions.MethodsWe compiled a series of patients with SCA27B, rec… Show more

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