TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia
| Autor: | Daniela Sandu, P. Shashidharan, Paul F. Good, Ruth H. Walker, Mitchell F. Brin |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Adult
Male Cytoplasm Pathology medicine.medical_specialty Biology Endoplasmic Reticulum medicine.disease_cause Gene expression medicine Humans Dystonia Mutation Endoplasmic reticulum Brain Colocalization medicine.disease Immunohistochemistry Dystonic Disorders Neurology (clinical) Carrier Proteins Dystonic disorder Molecular Chaperones |
| Zdroj: | Neurology. 58:120-124 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.58.1.120 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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