Genetics and neuropathology of Huntington's disease.
Int Rev Neurobiol
; 98: 325-72, 2011.
Article
em En
| MEDLINE
| ID: mdl-21907094
ABSTRACT
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder that prominently affects the basal ganglia, leading to affective, cognitive, behavioral and motor decline. The basis of HD is a CAG repeat expansion to >35 CAG in a gene that codes for a ubiquitous protein known as huntingtin, resulting in an expanded N-terminal polyglutamine tract. The size of the expansion is correlated with disease severity, with increasing CAG accelerating the age of onset. A variety of possibilities have been proposed as to the mechanism by which the mutation causes preferential injury to the basal ganglia. The present chapter provides a basic overview of the genetics and pathology of HD.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Proteínas Nucleares
/
Doença de Huntington
/
Predisposição Genética para Doença
/
Proteínas do Tecido Nervoso
Limite:
Humans
Idioma:
En
Revista:
Int Rev Neurobiol
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Estados Unidos