Machado-Joseph disease versus hereditary spastic paraplegia: case report
Arq. neuropsiquiatr
; 59(3B): 809-811, Sept. 2001. ilus
Article
in En
| LILACS
| ID: lil-295855
Responsible library:
BR1.1
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
Full text:
1
Index:
LILACS
Main subject:
Spastic Paraplegia, Hereditary
/
Machado-Joseph Disease
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Arq. neuropsiquiatr
Journal subject:
NEUROLOGIA
/
PSIQUIATRIA
Year:
2001
Type:
Article