Aging in individuals with the FMR1 mutation.
Am J Ment Retard
; 109(2): 154-64, 2004 Mar.
Article
en En
| MEDLINE
| ID: mdl-15000674
ABSTRACT
Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia manifested by balance problems, frequent falling, and Parkinsonian symptoms, such as masked facies, intermittent resting tremor, and mild rigidity. This finding has been termed the fragile X-associated tremor/ataxia syndrome (FXTAS) and has brought focus to the aging process in individuals with the FMR1 mutation. The premutation is associated with elevated messenger RNA levels leading to the formation of intranuclear inclusions in neurons and astrocytes associated with FXTAS. This review is a summary of our experience with FXTAS in male carriers of the premutation.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Envejecimiento
/
Proteínas de Unión al ARN
/
Mutación Puntual
/
Síndrome del Cromosoma X Frágil
/
Proteínas del Tejido Nervioso
Aspecto:
Patient_preference
Límite:
Aged
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Am J Ment Retard
Asunto de la revista:
TRANSTORNOS MENTAIS
Año:
2004
Tipo del documento:
Article
País de afiliación:
Estados Unidos