Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
Neurology
; 67(2): 346-9, 2006 Jul 25.
Article
em En
| MEDLINE
| ID: mdl-16864838
ABSTRACT
The authors report four adult-onset ataxia telangiectasia (AT) patients belonging to two families lacking pronounced cerebellar ataxia but displaying distal spinal muscular atrophy. AT was proven by genetic studies showing ATM mutations and a reduced level of ATM. ATM activity, as measured by phosphorylation of p53, was close to normal, indicating that the p53 response is not the only factor in preventing neural damage in anterior horn cells in AT.
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Coleções:
01-internacional
Temas:
Geral
/
Prevencao_e_fatores_de_risco
/
Hereditariedade
Base de dados:
MEDLINE
Assunto principal:
Ataxia Telangiectasia
/
Atrofia Muscular Espinal
/
Proteínas Serina-Treonina Quinases
/
Proteínas de Ciclo Celular
/
Proteínas Supressoras de Tumor
/
Proteínas de Ligação a DNA
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Holanda