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

Savioz, Armand; Leuba, G.; Forsell, C; Lilius, L.; Rossier, Colette; Saini, Krishan; Bouras, Constantin; Lannfelt, L.

doi:10.1159/000017185

Scientific article

English

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

Contributors

Savioz, Armand

; Leuba, G.; Forsell, C; Lilius, L.; Rossier, Colette; Saini, Krishan; Bouras, Constantin; Lannfelt, L.

Published in

Dementia and geriatric cognitive disorders, vol. 10, no. 6, p. 431-436

Publication date

1999

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 earlyonset AD.

Keywords

Amyloid precursor protein
Early-onset Alzheimer's disease
Mutation screen
Presenilin

UNIGE affiliation entities

Citation (ISO format)

SAVIOZ, Armand et al. 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. In: Dementia and geriatric cognitive disorders, 1999, vol. 10, n° 6, p. 431–436. doi: 10.1159/000017185

Article (Published version)

Identifiers

PID : unige:26730
DOI : 10.1159/000017185

Additional URL for this publication

http://www.karger.com/Article/FullText/17185

Journal ISSN

1420-8008

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12/03/2013 13:52:00

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12/03/2013 13:52:00

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14/03/2023 20:04:54

Status update

14/03/2023 20:04:53

Last indexation

30/10/2024 08:58:32

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

Contributors

Published in

Publication date

Abstract

Keywords

UNIGE affiliation entities

Citation (ISO format)

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Identifiers

Additional URL for this publication

Journal ISSN

Technical informations

Creation

First validation

Update

Status update

Last indexation