Journal
NEUROLOGY
Volume 58, Issue 1, Pages 120-124Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.58.1.120
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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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