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.
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
authors.affiliation: Department of Psychiatry, University of Geneva School of Medicine, Chêne-Bourg, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Savioz
authors.forename: G
authors.initials: G
authors.lastname: Leuba
authors.forename: C
authors.initials: C
authors.lastname: Forsell
authors.forename: L
authors.initials: L
authors.lastname: Lilius
authors.forename: C
authors.initials: C
authors.lastname: Rossier
authors.forename: K
authors.initials: K
authors.lastname: Saini
authors.forename: C
authors.initials: C
authors.lastname: Bouras
authors.forename: L
authors.initials: L
authors.lastname: Lannfelt
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism / Q000523:psychology; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D053764:Presenilin-1; D053766:Presenilin-2; D011569:Psychiatric Status Rating Scales; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013557:Switzerland
chemical_list: D016564:Amyloid beta-Protein Precursor; D017931:DNA Primers; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2; D004247:DNA