Article
Clinical features and genetic diagnosis of hereditary spinocerebellar ataxia 3.
Molecular medicine reports - 1 Oct 2016
Wang Yaoguang, Yang Xiaokai, Ma Weide, Li Jinxin, Zhang Qingyuan, Xia Shuqi, Wang Hai, Zhang Chenghui, Xu Xiaomin, Zheng Jiayong
Abstract excerpt
Spinocerebellar ataxia type 3 (SCA3) is a rare inherited autosomal dominant progressive neurological disorder, which results from a CAG‑repeat expansion in the gene encoding the deubiquitinating enzyme, ataxin‑3. At present, no effective treatment is available for this fatal disorder; however, certain studies have suggested that reducing the levels of mutant ataxin‑3 protein may reverse or halt the progression of...
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