Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.
Neurology
; 58(10): 1541-3, 2002 May 28.
Article
em En
| MEDLINE
| ID: mdl-12034796
ABSTRACT
Early-onset (infantile) Alexander disease is associated with mutations in the glial fibrillary acidic protein (GFAP) gene and two hot spots correlate to the severe phenotype. No molecular mechanisms have been elucidated in late-onset (juvenile) Alexander disease. The authors report a novel GFAP mutation in a patient with juvenile Alexander disease. The authors discuss similar molecular mechanisms in another intermediate filament disease and propose a possible molecular pathogenesis in juvenile Alexander disease.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso Central
/
Mutação Puntual
/
Proteína Glial Fibrilar Ácida
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article