TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia

被引：53

作者：

Walker, RH

Brin, MF

Sandu, D

Good, PF

Shashidharan, P

机构：

[1] Vet Adm Med Ctr, Dept Neurol 127, Bronx, NY 10468 USA

[2] Mt Sinai Sch Med, Dept Neurol, New York, NY USA

[3] Mt Sinai Sch Med, Dept Pathol, New York, NY USA

来源：

NEUROLOGY | 2002年 / 58卷 / 01期

关键词：

D O I：

10.1212/WNL.58.1.120

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A mutation of the DYT1 gone, which codes for torsinA, has been identified as the cause of one form of autosomal dominantly inherited dystonia. TorsinA immunohistochemistry was used to examine a case of DYT1, and several cases of non-DYT1, dystonia. No evidence was found for alterations of immunoreactivity at the light microscopic level, specifically neither cytoplasmic aggregations nor colocalization of torsinA immunoreactivity with a marker for endoplasmic reticulum. These findings contrast with results of recent cell culture studies of torsinA.

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页码：120 / 124

页数：5

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