SACS基因中的新型复合杂合突变导致一个芬兰家庭出现症状较轻的常染色体隐性遗传性沙勒沃伊-萨格奈痉挛性共济失调（ARSACS）。
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
作者信息
Palmio Johanna, Kärppä Mikko, Baumann Peter, Penttilä Sini, Moilanen Jukka, Udd Bjarne
机构信息
Department of Neurology Neuromuscular Research Center Tampere University and University Hospital Tampere Finland.
Department of Neurology Oulu University Hospital and University of Oulu Oulu Finland.
出版信息
Clin Case Rep. 2016 Oct 26;4(12):1151-1156. doi: 10.1002/ccr3.722. eCollection 2016 Dec.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in gene. The mutations segregated with the disease.
夏尔沃-萨格奈常染色体隐性痉挛性共济失调是魁北克以外一种罕见的疾病，可导致儿童期起病的小脑共济失调、周围神经病变和锥体束征。发现一个患有症状较轻的ARSACS的芬兰家族在该基因中存在三种突变，即p.E1100K、p.N1489S和p.M1359T。这些突变与疾病相关联。
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