An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia

被引：24

作者：

Costanzi-Porrini, S

Tessarolo, D

Abbruzzese, C

Liguori, M

Ashizawa, T

Giacanelli, M

机构：

[1] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

[2] San Camillo Hosp, Dept Neurosci, Rome, Italy

[3] VAMC, Houston, TX USA

来源：

NEUROLOGY | 2000年 / 54卷 / 02期

关键词：

SCA-2; CAG; interrupted repeats; penetrance;

D O I：

10.1212/WNL.54.2.491

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In spinocerebellar ataxia type 2 (SCA-8), a difference of three CAG repeats distinguishes normal alleles (14 to 31 repeats) from pathogenic alleles (34 to 57 repeats). All sequenced pathogenic alleles have a pure CAG repeat structure, whereas interrupted repeats have been seen exclusively in normal alleles. The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG)(24)(CAA)(CAG)(9), who showed a phenotype compatible with SCA-2. The interrupted allele coding for a 34 pure polyglutamine tract may cause the SCA phenotype.

引用

页码：491 / 493

页数：3

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