APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
A Rovelet-Lecrux, D Hannequin, G Raux, NL Meur… - Nature …, 2006 - nature.com
A Rovelet-Lecrux, D Hannequin, G Raux, NL Meur, A Laquerrière, A Vital, C Dumanchin…
Nature genetics, 2006•nature.comWe 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.
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
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.
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