The fragile x-associated tremor and ataxia syndrome (FXTAS).
Arq Neuropsiquiatr
; 68(5): 791-8, 2010 Oct.
Article
em En
| MEDLINE
| ID: mdl-21049196
ABSTRACT
FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia
/
Tremor
/
Proteína do X Frágil da Deficiência Intelectual
/
Síndrome do Cromossomo X Frágil
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Animals
/
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article