APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
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.
Rovelet-Lecrux
Anne
A
Inserm U614-IFRMP, Faculty of Medicine, Rouen, France.
Hannequin
Didier
D
Raux
Gregory
G
Le Meur
Nathalie
N
Laquerrière
Annie
A
Vital
Anne
A
Dumanchin
Cécile
C
Feuillette
Sébastien
S
Brice
Alexis
A
Vercelletto
Martine
M
Dubas
Frédéric
F
Frebourg
Thierry
T
Campion
Dominique
D
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
D016229:Amyloid beta-Peptides