The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer's disease.
Dement Geriatr Cogn Disord
; 29(6): 484-90, 2010.
Article
en En
| MEDLINE
| ID: mdl-20523046
ABSTRACT
BACKGROUND/AIMS:
Mutations in the amyloid precursor protein gene were the first to be recognized as a cause of Alzheimer's disease (AD).METHODS:
We describe 2 Italian families showing the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile), known as London mutation.RESULTS:
In 1 family, this mutation was responsible for AD in 3 out of 7 siblings and it is also present in a fourth sibling who has only shown signs of executive dysfunction so far. Two subjects of the other family with AD diagnosis were carriers of the same mutation.CONCLUSION:
All AD subjects showed a cognitive profile characterized by early impairment in long-term memory, shifting abilities and affective symptoms beginning in the fifth decade of life.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Atención
/
Precursor de Proteína beta-Amiloide
/
Trastornos del Conocimiento
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Función Ejecutiva
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Enfermedad de Alzheimer
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
/
Screening_studies
Idioma:
En
Revista:
Dement Geriatr Cogn Disord
Asunto de la revista:
GERIATRIA
/
NEUROLOGIA
/
PSIQUIATRIA
Año:
2010
Tipo del documento:
Article