title: APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
abstract: We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides. Duplication of the APP locus, resulting in accumulation of amyloid-beta peptides, causes ADEOAD with CAA.
authors.affiliation: Inserm U614-IFRMP, Faculty of Medicine, Rouen, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Rovelet-Lecrux
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: Gregory
authors.initials: G
authors.lastname: Raux
authors.forename: Nathalie
authors.initials: N
authors.lastname: Le Meur
authors.forename: Annie
authors.initials: A
authors.lastname: Laquerrière
authors.forename: Anne
authors.initials: A
authors.lastname: Vital
authors.forename: Cécile
authors.initials: C
authors.lastname: Dumanchin
authors.forename: Sébastien
authors.initials: S
authors.lastname: Feuillette
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Martine
authors.initials: M
authors.lastname: Vercelletto
authors.forename: Frédéric
authors.initials: F
authors.lastname: Dubas
authors.forename: Thierry
authors.initials: T
authors.lastname: Frebourg
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016229:Amyloid beta-Peptides / Q000032:analysis / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D016022:Case-Control Studies; D016657:Cerebral Amyloid Angiopathy / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D020440:Gene Duplication; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D016229:Amyloid beta-Peptides