Machado-Joseph disease versus hereditary spastic paraplegia: case report
Arq. neuropsiquiatr
;
59(3B): 809-811, Sept. 2001. ilus
Article
Dans Anglais
| 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
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Paraplégie spasmodique héréditaire
/
Maladie de Machado-Joseph
Type d'étude:
Etude diagnostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
langue:
Anglais
Texte intégral:
Arq. neuropsiquiatr
Thème du journal:
Neurologie
/
Psychiatrie
Année:
2001
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Federal University of Paraná/BR
/
UNICAMP/BR
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