无痉挛sacsin相关共济失调的表型  

A phenotype without spasticity in sacsin-rel-ated ataxia

作　　者：Shimazaki H. Takiyama Y. Sakoe K. 张琪 

机构地区：[1]Department of Neurology, Jichi Medical School, Tochigi 329-0498, Japan Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第10期56-56,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：The authors describe two Japanese siblings with autosomal recessive spastic a taxia of Charlevoix-Saguenay (ARSACS)-without spasticity, usually a core fea ture of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at a mino acid residue 304.The authors describe two Japanese siblings with autosomal recessive spastic a taxia of Charlevoix-Saguenay (ARSACS)-without spasticity, usually a core fea ture of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at a mino acid residue 304.

关 键 词：共济失调 sacsin 痉挛性 纯合子 氨基酸残基 错义突变 

分 类 号：R744[医药卫生—神经病学与精神病学]