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Spinocerebellar Ataxia Type 10 with Atypical Clinical Manifestation in Han Chinese.

Cerebellum (London, England) - 1 Jun 2023

Mao Chengyuan, Li Xinwei, Su Yun, Luo Haiyang, Fan Liyuan, Zheng Huimin, Fan Yu, Yang Zhihua, Zhang Shuo, Hu Zhengwei, Hao Xiaoyan, Shi Changhe, Xu Yuming

Abstract excerpt

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant cerebellar ataxia accompanied by extracerebellar signs and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of ATXN10. Cases of SCA10, formerly confined to America, have been reported in Europe and Asia. In the present study, we aim to report an atypical SCA10 family in China and provide a...

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PMID: 35441258
DOI: 10.1007/s12311-022-01405-4

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