Spinocerebellar ataxia type 1 in Russia

被引：23

作者：

Illarioshkin, SN ^{[1
]}

Slominsky, PA ^{[1
]}

Ovchinnikov, IV ^{[1
]}

Markova, ED ^{[1
]}

Miklina, NI ^{[1
]}

Klyushnikov, SA ^{[1
]}

Shadrina, M ^{[1
]}

Vereshchagin, NV ^{[1
]}

Limborskaya, SA ^{[1
]}

IvanovaSmolenskaya, IA ^{[1
]}

机构：

[1] RUSSIAN ACAD SCI,INST MOLEC GENET,DEPT MOL BASIS HUMAN GENET,MOSCOW 123182,RUSSIA

来源：

JOURNAL OF NEUROLOGY | 1996年 / 243卷 / 07期

关键词：

dominant ataxia; trinucleotide repeat; molecular analysis;

D O I：

10.1007/BF00886871

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia type 1 (SCA1) is one form of autosomal dominant cerebellar ataxia (ADCA) caused by trinucleotide (GAG) repeat expansion within a mutant gene. We investigated 25 patients from 15 Russian ADCA families for SCA1 mutation and found an expanded CAG repeat in 5 families. Mutant chromosomes contained 41-51 CAG repeats (mean 46.1, SD 3.1), and normal chromosomes displayed 21-27 repeat units (mean 24.7, SD 1.3). Progressive cerebellar ataxia in our series of SCA1 patients was very commonly associated with dysarthria (in all cases) and pyramidal signs (in 10 of 11 cases). In three patients from one family we found optic atrophy, which has never been described before in genetically proven cases of SCA1. We observed no specific clinical features distinguishing SCA1 from non-SCA1 patients. In contrast to the high frequency of SCA1 in our series, we found no patients with Machado-Joseph disease, another form of ADCA caused by expanded CAG repeat.

引用

页码：506 / 510

页数：5

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