Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family

被引：15

作者：

Palmio, Johanna ^{[1
,2
]}

Karppa, Mikko ^{[3
,4
]}

Baumann, Peter ^{[5
]}

Penttila, Sini ^{[1
,2
]}

Moilanen, Jukka ^{[4
,6
,7
]}

Udd, Bjarne ^{[1
,2
,8
,9
,10
]}

机构：

[1] Tampere Univ, Neuromuscular Res Ctr, Dept Neurol, Tampere, Finland

[2] Univ Hosp, Tampere, Finland

[3] Oulu Univ Hosp, Dept Neurol, Oulu, Finland

[4] Univ Oulu, Oulu, Finland

[5] Lapland Cent Hosp, Dept Neurol, Rovaniemi, Finland

[6] Oulu Univ Hosp, Dept Clin Genet, Oulu, Finland

[7] Oulu Univ Hosp, Med Res Ctr Oulu, Oulu, Finland

[8] Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland

[9] Univ Helsinki, Haartman Inst, Dept Med Genet, Helsinki, Finland

[10] Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland

来源：

CLINICAL CASE REPORTS | 2016年 / 4卷 / 12期

关键词：

Autosomal recessive; SACS gene; spastic ataxia;

D O I：

10.1002/ccr3.722

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 SACS gene. The mutations segregated with the disease.

引用

页码：1151 / 1156

页数：6

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