APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy - PubMed (original) (raw)
doi: 10.1038/ng1718. Epub 2005 Dec 20.
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
Affiliations
- PMID: 16369530
- DOI: 10.1038/ng1718
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.
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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