A phenotype without spasticity in sacsin-related ataxia

被引：42

作者：

Shimazaki, H ^{[1
]}

Takiyama, Y ^{[1
]}

Sakoe, K ^{[1
]}

Ando, Y ^{[1
]}

Nakano, I ^{[1
]}

机构：

[1] Jichi Med Sch, Dept Neurol, Minami Kawachi, Tochigi 3290498, Japan

来源：

NEUROLOGY | 2005年 / 64卷 / 12期

关键词：

D O I：

10.1212/01.WNL.0000166031.91514.B3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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

引用

页码：2129 / 2131

页数：3

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