Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6

被引：24

作者：

Nagai, Y

Azuma, T

Funauchi, M

Fujita, M

Umi, M

Hirano, M

Matsubara, T

Ueno, S

机构：

[1] Osaka Med Ctr Canc & Cardiovasc Dis, Dept Internal Med Neurol 2, Higashinari Ku, Osaka 537, Japan

[2] Fujita Neurol Clin, Higashiosaka, Osaka 577, Japan

[3] Tane Daini Hosp, Dept Neurol, Minato Ku, Osaka 552, Japan

[4] Nara Med Univ, Dept Med Genet, Kashihara, Nara 634, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1998年 / 157卷 / 01期

关键词：

spinocerebellar ataxia type 6; autosomal dominant cerebellar ataxia; trinucleotide repeat; CAG repeat; polyglutamine; spinocerebellar degeneration; alpha 1A-voltage-dependent calcium channel gene;

D O I：

10.1016/S0022-510X(98)00044-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report on seven Japanese families with spinocerebellar ataxia type 6 (SCA6) carrying small CAG repeat expansions in the calcium channel alpha 1A subunit gene. The number of the expanded CAG repeat, ranged from 22 to 25, showed no intergenerational instability and had a significant inverse correlation with the age of onset. The clinical features of these patients were late onset progressive pure cerebellar ataxia with dysarthria and nystagmus, and are consistent with autosomal dominant cerebellar ataxia type III (ADCA type III). Magnetic resonance imaging scan of the brain demonstrated cerebellar atrophy with no evidence of brainstem involvement. We propose that clinical phenotype of SCA6 is compatible with ADCA type III and SCA6 is one of the most common types of ADCA in Japan. (C) 1998 Elsevier Science B.V.

引用

页码：52 / 59

页数：8

共 52 条

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