학술논문
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Document Type
Article
Author
Source
Subject
*ALZHEIMER'S disease
*CHROMOSOMES
*AMYLOID
*PEPTIDES
*GENETICS
*BRAIN
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Language
ISSN
1061-4036
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-β peptides. Duplication of the APP locus, resulting in accumulation of amyloid-β peptides, causes ADEOAD with CAA. [ABSTRACT FROM AUTHOR]