Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Novel compound heterozygous mutations in the SACS gene

被引：9

作者：

Karnada, Sachiko ^{[1
]}

Okawa, Satoshi ^{[1
]}

Irnota, Tsuyoshi ^{[2
]}

Sugawara, Masashiro ^{[1
]}

Toyoshima, Itaru ^{[1
,3
]}

机构：

[1] Akita Univ, Sch Med, Dept Neurol, Akita 0108543, Japan

[2] Akita Univ, Sch Med, Med Educ Ctr, Akita 0108543, Japan

[3] Akita City Hosp, Div Neurol, Akita 0100933, Japan

来源：

JOURNAL OF NEUROLOGY | 2008年 / 255卷 / 06期

关键词：

ataxia; cerebellar degeneration; neurodegeneration; genetics;

D O I：

10.1007/s00415-008-0672-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegeneralive disorder first described among French Canadians in Quebec. To date, 24 mutations have been reported in the SACS gene of ARSACS patients. The authors report a clinical and genetic analysis of a Japanese family with ARSACS with novel compound heterozygous mutations in the SACS gene (N161fsX175, L802P). The phenotype is similar to that of previously reported ARSACS patients.

引用

页码：803 / 806

页数：4

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