Machado-Joseph disease versus hereditary spastic paraplegia: case report
Arq. neuropsiquiatr
;
59(3B): 809-811, Sept. 2001. ilus
Artigo
em Inglês
| LILACS
| ID: lil-295855
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 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
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Paraplegia Espástica Hereditária
/
Doença de Machado-Joseph
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Arq. neuropsiquiatr
Assunto da revista:
Neurologia
/
Psiquiatria
Ano de publicação:
2001
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Federal University of Paraná/BR
/
UNICAMP/BR
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