Pathogenic effect of an intermediate-size SCA-6 allele (CAG)19 in a homozygous patient

被引：32

作者：

Mariotti, C

Gellera, C

Grisoli, M

Mineri, R

Castucci, A

Di Donato, S

机构：

[1] Natl Neurol Inst, IRCCS Carlos Besta, Div Biochem & Genet, I-20133 Milan, Italy

[2] Natl Neurol Inst, IRCCS Carlos Besta, Div Neuroradiol, I-20133 Milan, Italy

来源：

NEUROLOGY | 2001年 / 57卷 / 08期

关键词：

D O I：

10.1212/WNL.57.8.1502

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

SCA6 is caused by CAG expansion in the alpha 1A voltage-dependent calcium channel subunit gene. The authors studied an Italian family in which one patient carried a fully expanded SCA6 allele with 26-CAG repeats, whereas the other affected family member was homozygous for an intermediate-size allele of 19-CAG repeats. Three family members, heterozygous for the intermediate allele, were clinically unaffected. The findings demonstrate a dose-dependent pathogenic effect of an intermediate CAG expansion in the SCA6 gene.

引用

页码：1502 / 1504

页数：3

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