APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
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- 20 December 2005
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 38 (1), 24-26
- https://doi.org/10.1038/ng1718
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.Keywords
This publication has 15 references indexed in Scilit:
- Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an updateJournal of Medical Genetics, 2005
- Segmental Duplications and Copy-Number Variation in the Human GenomeAmerican Journal of Human Genetics, 2005
- Twenty Years of the Alzheimer’s Disease Amyloid Hypothesis: A Genetic PerspectiveCell, 2005
- Significant Contribution of Germline BRCA2 Rearrangements in Male Breast Cancer FamiliesCancer Research, 2004
- CSF tau and Aβ42 levels in patients with Down’s syndromeNeurology, 2001
- The DNA sequence of human chromosome 21Nature, 2000
- Cerebral amyloid angiopathy without and with cerebral hemorrhages: A comparative histological studyAnnals of Neurology, 1991
- The Consortium to Establish a Registry for Alzheimer's Disease (CERAD)Neurology, 1991
- Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.Proceedings of the National Academy of Sciences, 1989
- Clinical diagnosis of Down's syndromeClinical Genetics, 1976