Does genetic anticipation occur in familial Alexander disease?
Neurogenetics
; 22(3): 215-219, 2021 07.
Article
en En
| MEDLINE
| ID: mdl-34046764
ABSTRACT
Alexander Disease (AxD) is a rare leukodystrophy caused by missense mutations of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present in adulthood. We report a family with inherited AxD in which the mother presented with symptoms many years after her daughter. We reviewed the age of onset in all published cases of familial AxD and found that 32 of 34 instances of parent-offspring pairs demonstrated an earlier age of onset in offspring compared to the parent. We suggest that genetic anticipation occurs in familial AxD and speculate that genetic mosaicism could explain this phenomenon.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Anticipación Genética
/
Enfermedad de Alexander
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Neurogenetics
Asunto de la revista:
GENETICA
/
NEUROLOGIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Reino Unido