Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families

被引:23
作者
Gücüyener, K
Özgül, K
Paternotte, C
Erdem, H
Prud'homme, JF
Özgüç, M
Topaloglu, H [1 ]
机构
[1] Hacettepe Childrens Hosp Med Ctr, Dept Child Neurol, TR-06100 Ankara, Turkey
[2] Gazi Univ, Sch Med, Dept Child Neurol, Ankara, Turkey
[3] TUBITAK DNA, Cell Bank, Ankara, Turkey
[4] Genethon, Evry, France
[5] Hacettepe Univ, Dept Med Biol, TR-06100 Ankara, Turkey
关键词
hereditary spastic ataxia; genetic locus; Charlevoix-Saguenay ataxia;
D O I
10.1055/s-2001-16616
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 is an early onset form of hereditary spastic paraplegia with a peculiar clinical presentation. In addition to cerebellar findings which manifest first with ataxic gait in early life and spasticity, on an evolutionary basis, there is axonal neuropathy, prominent myelinated fibers in the optic fundus, and evidence of cerebellar atrophy that can be detected by cranial MRI. Intelligence is usually normal, however lower IQs have also been documented. This disorder mainly originates from the Charlevoix-Saguenay region of Quebec. Here, we report two Turkish families linked to the disease locus on chromosome 13q12. There was homozygosity and segregation of disease haplotypes in both families. This form of spastic ataxia may be more common than originally presumed.
引用
收藏
页码:142 / 146
页数:5
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