No Detected Mutations in the Genes for the Amyloid Precursor Protein and Presenilins 1 and 2 in a Swiss Early-Onset Alzheimer&#039;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

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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
Authors		Savioz, Armand Leuba, G. Forsell, C Lilius, L. Rossier, Colette Saini, Krishan Bouras, Constantin Lannfelt, L.
Published in		Dementia and Geriatric Cognitive Disorders. 1999, vol. 10, no. 6, p. 431-436
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
Identifiers		DOI: 10.1159/000017185
Full text		Article (Published version) (499 Kb) - Limited access to UNIGE Other version: http://www.karger.com/Article/FullText/17185
Structures		Faculté de médecine / Section de médecine clinique / Département de psychiatrie Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement Faculté des sciences / Section de biologie / Département de génétique et évolution
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 https://archive-ouverte.unige.ch/unige:26730