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

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

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

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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PMID:
16369530
DOI:
10.1038/ng1718
[Indexed for MEDLINE]

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