Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

European journal of neurology（2023）

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摘要

We showed that SCA27B is the most common cause of LOCA in our cohort. Our results support the use of FGF14 GAA repeat expansion screening as a first-tier genetic test in patients with LOCA.

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关键词

ataxia, FGF14, GAA-FGF14 ataxia, late-onset cerebellar ataxia, neurogenetics, repeat expansion disorder, RFC1, SCA27B

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