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Updated: Aug 31, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases
Ruth H Walker1, Paul F Good, P Shashidharan
1Department of Neurology, Veterans Affairs Medical Center, Bronx, New York, NY 10029, USA. ruth.walker@mountsinai.org
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.
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