A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5  

作　　者：Li-Zhi Liu Ming Ren Mao Li Yu-Ting Ren Bo Sun Xiao-Sun Sun Si-Yu Chen Si-Yuan Li Xu-Sheng Huang 

机构地区：[1]Department of Neurology,Chinese People's Liberation Army General Hospital,Beijing 100853,China [2]Department of Neurology,Affiliated Hospital of Weifang Medical University,Weifang,Shandong 261031,China

出　　处：《Chinese Medical Journal》2016年第20期2516-2517,共2页中华医学杂志（英文版）

摘　　要：To the Editor：Spinocerebellar ataxia type 5 （SCA5） is a rare autosomal dominant spinocerebellar ataxia.Mutations in the spectrin beta nonerythrocytic 2 gene （SPTBN2） are known to cause SCA5,six of which have been reported,including three missense mutations and three deletion mutations.To the Editor：Spinocerebellar ataxia type 5 （SCA5） is a rare autosomal dominant spinocerebellar ataxia.Mutations in the spectrin beta nonerythrocytic 2 gene （SPTBN2） are known to cause SCA5,six of which have been reported,including three missense mutations and three deletion mutations.

分 类 号：R744.7[医药卫生—神经病学与精神病学]