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.

Details

Serval ID
serval:BIB_13307
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
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.
Journal
Dementia and Geriatric Cognitive Disorders
Author(s)
Savioz A., Leuba G., Forsell C., Lilius L., Rossier C., Saini K., Bouras C., Lannfelt L.
ISSN
1420-8008
Publication state
Published
Issued date
1999
Peer-reviewed
Oui
Volume
10
Number
6
Pages
431-436
Language
english
Abstract
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
Keywords
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
Pubmed
Web of science
Create date
19/11/2007 12:05
Last modification date
20/08/2019 12:41
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