Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/81341
Type: Artigo de periódico
Title: Machado-Joseph disease versus hereditary spastic paraplegia - Case report
Author: Teive, HAG
Iwamoto, FM
Camargo, CH
Lopes-Cendes, I
Werneck, LC
Abstract: Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSR A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.
Subject: spinocerebellar ataxia
Machado-Joseph disease
hereditary spastic paraplegia
Country: Brasil
Editor: Assoc Arquivos De Neuro- Psiquiatria
Rights: aberto
Identifier DOI: 10.1590/S0004-282X2001000500030
Date Issue: 2001
Appears in Collections:Unicamp - Artigos e Outros Documentos

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