TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia.
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.
Walker
R H
RH
Department of Neurology (Dr. Walker), Veterans Affairs Medical Center, Bronx.
Brin
M F
MF
Sandu
D
D
Good
P F
PF
Shashidharan
P
P
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
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human