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

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

Anne Rovelet-Lecrux  1 , 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
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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Anne Rovelet-Lecrux et al. Nat Genet. 2006 Jan.

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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Comment in

  • Amyloid double trouble.
    Hardy J. Hardy J. Nat Genet. 2006 Jan;38(1):11-2. doi: 10.1038/ng0106-11. Nat Genet. 2006. PMID: 16380721 No abstract available.

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