title: TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia.
abstract: 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.
authors.affiliation: Department of Neurology (Dr. Walker), Veterans Affairs Medical Center, Bronx.
authors.forename: R H
authors.initials: RH
authors.lastname: Walker
authors.forename: M F
authors.initials: MF
authors.lastname: Brin
authors.forename: D
authors.initials: D
authors.lastname: Sandu
authors.forename: P F
authors.initials: PF
authors.lastname: Good
authors.forename: P
authors.initials: P
authors.lastname: Shashidharan
mesh_terms: D000328:Adult; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism*; D003593:Cytoplasm / Q000378:metabolism; D020821:Dystonic Disorders / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D004721:Endoplasmic Reticulum / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018832:Molecular Chaperones; D009154:Mutation
chemical_list: D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human