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TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases

✍ Scribed by Ruth H. Walker; Paul F. Good; P. Shashidharan

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
318 KB
Volume
18
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2003 Movement Disorder Society

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## In apparently healthy, unrelated Hungarians we examined triplet repeat length polymorphism at Huntington disease (HD), spinal and bulbar muscular atrophy (SBMA), spinocerebellar ataxia type 1 (SCA-1), dentatorubral-pallidoluysian atrophy (DRPLA), and myotonic dystrophy (MD) loci. The distributi