Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2

被引：25

作者：

Matsuura, T

Sasaki, H

Yabe, I

Hamada, K

Hamada, T

Shitara, M

Tashiro, K

机构：

[1] Hokkaido Univ, Sch Med, Dept Neurol, Kita Ku, Sapporo, Hokkaido 0608638, Japan

[2] Hokuyukai Neurol Hosp, Nishi Ku, Sapporo, Hokkaido 0630820, Japan

[3] Sapporo City Hosp Seiryoin, Dept Psychiat, Toyohira Ku, Sapporo, Hokkaido 0620934, Japan

来源：

JOURNAL OF NEUROLOGY | 1999年 / 246卷 / 09期

关键词：

spinocerebellar ataxia type 2; CAG repeat; somatic mosaicism;

D O I：

10.1007/s004150050464

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 2 (SCA2) is caused by expansion of unstable CAG repeats within the coding region of the novel gene, ataxin-2, on chromosome 12q24.1. We analyzed CAG repeat size of the SCA2 allele in two deceased patients (father and daughter) to investigate the repeat mosaicism in CNS regions. The CAG repeat size was examined using lymphoblastoid cell lines, frozen brain tissues, and paraffin-embedded tissues. In each patient the major repeat size of the expanded allele varied within the brain or spinal cord (father, 39-42; daughter, 39-47 repeats), and was smaller by three to eight repeats in the cerebellum than in other CNS regions. Our results are in agreement with the findings in other polyglutamine disorders showing somatic mosaicism.

引用

页码：835 / 839

页数：5

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