Article
Spinocerebellar ataxia type 21 exists in the Chinese Han population.
Scientific reports - 27 Jan 2016
Zeng Sheng, Zeng Junsheng, He Miao, Zeng Xianfeng, Zhou Yao, Liu Zhen, Xia Kun, Pan Qian, Jiang Hong, Shen Lu, Yan Xinxiang, Tang Beisha, Wang Junling
Abstract excerpt
Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. To date, molecular screening of SCA21 has not been reported among patients of other ethnic origins or in other areas....
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