No detected mutations in the genes for the amyloid precursor protein and presenilins 1 and 2 in a swiss early-onset Alzheimer's disease family with a dominant mode of inheritance.
Détails
ID Serval
serval:BIB_13307
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
No detected mutations in the genes for the amyloid precursor protein and presenilins 1 and 2 in a swiss early-onset Alzheimer's disease family with a dominant mode of inheritance.
Périodique
Dementia and Geriatric Cognitive Disorders
ISSN
1420-8008
Statut éditorial
Publié
Date de publication
1999
Peer-reviewed
Oui
Volume
10
Numéro
6
Pages
431-436
Langue
anglais
Résumé
Mutations have been found in more than a hundred early-onset families with Alzheimer's disease (AD) in the genes for the amyloid precursor protein, presenilin 1 and presenilin 2. The object of our investigation was to identify if these mutations or novel ones were operating in a Swiss early-onset AD family (mean age of onset: 53.3 years) with 7 members available, all neuropathologically confirmed. No known or new mutations were detected. Thus, our data support the existence of a yet unknown mutation, or other genes, contributing to familial early-onset AD. CopyrightCopyright 1999S.KargerAG,Basel
Mots-clé
Adult, Age of Onset, Aged, Alzheimer Disease/genetics, Alzheimer Disease/metabolism, Amyloid beta-Protein Precursor/genetics, DNA/genetics, DNA Primers, Exons/genetics, Female, Genes, Dominant/genetics, Humans, Immunohistochemistry, Male, Membrane Proteins/genetics, Middle Aged, Pedigree, Presenilin-1, Presenilin-2, Psychiatric Status Rating Scales, Reverse Transcriptase Polymerase Chain Reaction, Switzerland
OAI-PMH
Pubmed
Web of science
Création de la notice
19/11/2007 13:05
Dernière modification de la notice
20/08/2019 13:41
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