TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases

TitleTorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases
Publication TypeJournal Article
Year of Publication2003
AuthorsWalker, RH, Good, PF, Shashidharan, P
JournalMovement Disorders: Official Journal of the Movement Disorder Society
Volume18
Issue9
Pagination1041-4
Date Published09/2003
KeywordsCarrier Proteins, External, Huntington Disease, Inclusion Bodies, Machado-Joseph Disease, Molecular Chaperones, Trinucleotide Repeats
Abstract

A mutation of the DYT1 gene, which codes for torsinA, has been identified as a cause of autosomal dominantly inherited dystonia. The function of torsinA is not yet known, but it is found throughout the central nervous system and has been identified in Lewy bodies in Parkinson's disease. We examined cases of Huntington's disease, spinocerebellar ataxia type III, and Huntington's disease-like 2 using antibodies to torsinA, and found that ubiquitinated, intranuclear neuronal inclusions were torsinA-immunoreactive, possibly indicating a role for torsinA in protein degradation.

URLhttp://www.ncbi.nlm.nih.gov/pubmed/14502672