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

From the Department of Neurology (Dr. Walker), Veterans Affairs Medical Center, Bronx; and Departments of Neurology (Drs. Walker, Brin, Sandu, and Shashidharan) and Pathology (Dr. Good), Mount Sinai School of Medicine, New York, NY.

Address correspondence and reprint requests to Dr. Ruth H. Walker, Department of Neurology (127), Veterans Affairs Medical Center, 130 W. Kingsbridge Road, Bronx, NY 10468; e-mail: ruth.walker{at}mountsinai.org

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.

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