Kamada S, Okawa S, Imota T, Sugawara M, Toyoshima I
Dept. of Neurology, Akita University School of Medicine, 1-1-1, Hondo, Akita 010-8543, Japan.
J Neurol. 2008 Jun;255(6):803-6. doi: 10.1007/s00415-008-0672-6. Epub 2008 May 19.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative 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.
夏尔沃-萨格奈常染色体隐性痉挛性共济失调（ARSACS）是一种神经退行性疾病，最初在魁北克的法裔加拿大人中被描述。迄今为止，已在ARSACS患者的SACS基因中报告了24种突变。作者报告了一个患有ARSACS的日本家庭的临床和基因分析，该家庭的SACS基因存在新的复合杂合突变（N161fsX175，L802P）。其表型与先前报道的ARSACS患者相似。
