Sacsin相关性共济失调患者的新型复合杂合子突变

• 作 者: Yamamoto Y. Hiraoka K Araki M. 王孝文
• 机 构: Department of Neurology D4 Osaka University Graduate School of Medicine 2-2 Yamada-oka Suita Osaka
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2006年03期
• 关键词: 共济失调 Sacsin 复合杂合子 基因突变 常染色体隐性 魁北克省 早发型 痉挛性 孪生姐妹 纯合子

High prevalence of a form of autosomal recessive spastic ataxia with early onset was originally described among French Canadians in the Charlevoix-Saguenay region, in northeastern Quebec. Since the responsible gene (SACS) was identified, mutations in the SACS gene have been described in Tunisia, Italy, Turkey, and Japan. The mutation sites found outside Quebec are different from the ones in Quebec. All patients outside Quebec, except one Italian patient, have been reported to have homozygous mutations. The authors report here identical twin sisters with novel compound heterozygous mutations (c.[2951_2952delAG]+[3922delT]) in the SACS gene.

High prevalence of a form of autosomal recessive spastic ataxia with early onset was originally described among French Canadians in the Charlevoix-Saguenay region, in northeastern Quebec. Since the responsible gene (SACS) was identified, mutations in the SACS gene have been described in Tunisia The mutation sites found outside Quebec are different from the ones in Quebec. All patients outside Quebec, except one Italian patient, have been reported to have homozygous mutations. The authors report here identical twin sisters with novel compound heterozygous mutations (c. [2951_2952delAG] + [3922delT]) in the SACS gene.