TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia
TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia
复制标题
DYT1 和非 DYT1 肌张力障碍患者大脑中 TorsinA 免疫反应性
DOI：
10.1212/wnl.58.1.120
复制
发表时间：
2002
期刊：
影响因子：
9.9
通讯作者：
P. Shashidharan
中科院分区：
文献类型：
--
作者：
R. Walker;Mitchell F. Brin;D. Sandu;P.F Good;P. Shashidharan
A mutation of the DYT1 gene, 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.
