Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
Neurology
; 55(9): 1388-90, 2000 Nov 14.
Article
em En
| MEDLINE
| ID: mdl-11087788
ABSTRACT
Autosomal dominant hereditary spastic paraplegia is genetically heterogeneous, with at least five loci identified by linkage analysis. Recently, mutations in spastin were identified in SPG4, the most common locus for dominant hereditary spastic paraplegia that was previously mapped to chromosome 2p22. We identified five novel mutations in the spastin gene in five families with SPG4 mutations from North America and Tunisia and showed the absence of correlation between the predicted mutant spastin protein and age at onset of symptoms.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação ao Cálcio
/
Paraplegia Espástica Hereditária
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Africa
/
America do norte
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article