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TY - JOUR AU - Rovelet-Lecrux, Anne AU - Hannequin, Didier AU - Raux, Gregory AU - Meur, Nathalie Le AU - Laquerrière, Annie AU - Vital, Anne AU - Dumanchin, Cécile AU - Feuillette, Sébastien AU - Brice, Alexis AU - Vercelletto, Martine AU - Dubas, Frédéric AU - Frebourg, Thierry AU - Campion, Dominique PY - 2006 DA - 2006/01/01 TI - APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy JO - Nature Genetics SP - 24 EP - 26 VL - 38 IS - 1 AB - 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. SN - 1546-1718 UR - https://doi.org/10.1038/ng1718 DO - 10.1038/ng1718 ID - Rovelet-Lecrux2006 ER -