Torsin A immunoreactivity in inclusion bodies in trinucleotide repeat diseases

Ruth H. Walker, Paul F. Good, P. Shashidharan

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

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.

Original languageEnglish
Pages (from-to)1041-1044
Number of pages4
JournalMovement Disorders
Volume18
Issue number9
DOIs
StatePublished - 1 Sep 2003

Keywords

  • Inclusion bodies
  • Torsin A
  • Trinucleotide repeats

Fingerprint

Dive into the research topics of 'Torsin A immunoreactivity in inclusion bodies in trinucleotide repeat diseases'. Together they form a unique fingerprint.

Cite this