Molecular evidence of presenilin 1 mutation in familial early onset dementia.
Am J Med Genet
; 114(3): 292-8, 2002 Apr 08.
Article
en En
| MEDLINE
| ID: mdl-11920851
Early onset familial Alzheimer disease (FAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. We reported previously a variant form of FAD, due to deletion of exon 9 of PSEN1, with spastic paralysis and rigidity. We describe a novel PSEN1 mutation in a family of Japanese origin with six affected individuals of both genders in two generations. The disease is characterized by presenile dementia, which is preceded by spastic paraparesis and apraxia. This mutation, which is predicted to cause a missense substitution of serine for glycine, occurred at codon 266 in exon 8 of PSEN1. The mutation was not found in 200 controls and 200 sporadic AD patients. On this basis alone, it seems this mutation is pathogenic. Our findings provide a new clue to the etiology of the familial early onset dementia.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Demencia
/
Proteínas de la Membrana
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Am J Med Genet
Año:
2002
Tipo del documento:
Article
País de afiliación:
Japón
Pais de publicación:
Estados Unidos