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

被引：888

作者：

Rovelet-Lecrux, A

Hannequin, D

Raux, G

Le Meur, N

Laquerrière, A

Vital, A

Dumanchin, C

Feuillette, S

Brice, A

Vercelletto, M

Dubas, F

Frebourg, T

Campion, D ^{[1
]}

机构：

[1] INSERM, U614, IFRMP, Fac Med, Rouen, France

[2] Univ Hosp, Dept Neurol, Rouen, France

[3] EFS Normandy, Lab Cytogenet, Bois Guillaume, France

[4] Univ Hosp, Dept Pathol, Rouen, France

[5] Univ Hosp, Dept Pathol, Bordeaux, France

[6] Salpetriere Hosp, INSERM, U679, Paris, France

[7] Univ Hosp, Dept Neurol, Nantes, France

[8] Univ Hosp, Dept Neurol, Angers, France

[9] CHSR, Dept Res, Sotteville Les Rouen, France

来源：

NATURE GENETICS | 2006年 / 38卷 / 01期

关键词：

D O I：

10.1038/ng1718

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：24 / 26

页数：3

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