APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Anne Rovelet-Lecrux; Didier Hannequin; Gregory Raux; Nathalie Le Meur; Annie Laquerrière; Anne Vital; Cécile Dumanchin; Sébastien Feuillette; Alexis Brice; Martine Vercelletto; Frédéric Dubas; Thierry Frebourg; Dominique Campion

doi:10.1038/ng1718

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Nat Genet. 2006 Jan;38(1):24-6. doi: 10.1038/ng1718. Epub 2005 Dec 20.

Authors

Anne Rovelet-Lecrux¹, Didier Hannequin, Gregory Raux, Nathalie Le Meur, Annie Laquerrière, Anne Vital, Cécile Dumanchin, Sébastien Feuillette, Alexis Brice, Martine Vercelletto, Frédéric Dubas, Thierry Frebourg, Dominique Campion

Affiliation

¹ Inserm U614-IFRMP, Faculty of Medicine, Rouen, France.

PMID: 16369530
DOI: 10.1038/ng1718

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Age of Onset
Alzheimer Disease / epidemiology
Alzheimer Disease / genetics*
Alzheimer Disease / pathology
Amyloid beta-Peptides / analysis
Amyloid beta-Peptides / genetics*
Brain / pathology*
Case-Control Studies
Cerebral Amyloid Angiopathy / epidemiology
Cerebral Amyloid Angiopathy / genetics*
Cerebral Amyloid Angiopathy / pathology
Female
Gene Duplication*
Genes, Dominant
Humans
Male
Microsatellite Repeats
Polymerase Chain Reaction / methods

Substances

Amyloid beta-Peptides

Associated data

OMIM/104311
OMIM/104760
OMIM/600759