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PSP-Phenotype in SCA8: Case Report and Systemic Review.

Cerebellum (London, England) - 1 Feb 2019

Samukawa Makoto, Hirano Makito, Saigoh Kazumasa, Kawai Shigeru, Hamada Yukihiro, Takahashi Daisuke, Nakamura Yusaku, Kusunoki Susumu

Abstract excerpt

Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by expanded CTA/CTG repeats in the ATXN8OS gene. Many patients had pure cerebellar ataxia, while some had parkinsonism, both without causal explanation. We analyzed the ATXN8OS gene in 150 Japanese patients with ataxia and 76 patients with Parkinson's disease or related disorders. We systematically reassessed 123...

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PMID: 29916049
DOI: 10.1007/s12311-018-0955-0

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