APP Locus Duplication Causes Autosomal Dominant Early-onset Alzheimer Disease with Cerebral Amyloid Angiopathy

Overview

Journal Nat Genet

Specialty Genetics

Date 2005 Dec 22

PMID 16369530

Citations 550

Authors

Anne Rovelet-Lecrux

Didier Hannequin

Gregory Raux

Nathalie Le Meur

Annie Laquerriere

Anne Vital

Cecile Dumanchin

Sebastien Feuillette

Alexis Brice

Martine Vercelletto

Frederic Dubas

Thierry Frebourg

Dominique Campion

Affiliations

Soon will be listed here.

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.

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