Machado-Joseph disease versus hereditary spastic paraplegia: case report

Arquivos de Neuro-Psiquiatria

Hélio A. Ghizoni Teive²  Fabio Massaiti Iwamoto²  Carlos Henrique Camargo²  Iscia Lopes-cendes¹  Lineu Cesar Werneck² 

[1] ,Federal University of Paraná Hospital de Clínicas Division of NeurologyCuritiba PR ,Brazil

关键词: spinocerebellar ataxia;    Machado-Joseph disease;    hereditary spastic paraplegia;    ataxia espinocerebelar;    doença de Machado-Joseph;    paraplegia espástica hereditária;   

DOI  :  10.1590/S0004-282X2001000500030

来源: SciELO

【 摘 要 】

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 HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.

【 授权许可】

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