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Article

[Spinocerebellar ataxia 17: full phenotype in a 42 CAG/CAA-repeats carrier].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2021

I D V, Proskokova T N, Sikora N V, Abramycheva N Yu, Illarioshkin S N

Abstract excerpt

Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxia with a wide clinical spectrum, which can imitate other motor disorders. The article presents an observation of a 51-year-old woman with slowly progressive coordination disorders and changes in handwriting manifested at the age of 39 years. Neurologic examination reveals severe cerebellar ataxia,...

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PMID: 35041320
DOI: 10.17116/jnevro2021121121100

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