Artículos de revistas
Machado-Joseph disease versus hereditary spastic paraplegia - Case report
Registro en:
Arquivos De Neuro-psiquiatria. Assoc Arquivos De Neuro- Psiquiatria, v. 59, n. 3B, n. 809, n. 811, 2001.
0004-282X
WOS:000171555200030
10.1590/S0004-282X2001000500030
Autor
Teive, HAG
Iwamoto, FM
Camargo, CH
Lopes-Cendes, I
Werneck, LC
Institución
Resumen
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. 59 3B 809 811