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

共 15 条

[11] α-synuclein locus triplication causes Parkinson's disease [J].

Singleton, AB ;

Farrer, M ;

Johnson, J ;

Singleton, A ;

Hague, S ;

Kachergus, J ;

Hulihan, M ;

Peuralinna, T ;

Dutra, A ;

Nussbaum, R ;

Lincoln, S ;

Crawley, A ;

Hanson, M ;

Maraganore, D ;

Adler, C ;

Cookson, MR ;

Muenter, M ;

Baptista, M ;

Miller, D ;

Blancato, J ;

Hardy, J ;

Gwinn-Hardy, K .

SCIENCE, 2003, 302 (5646) :841-841

[12] Twenty years of the Alzheimer's disease amyloid hypothesis: A genetic perspective [J].

Tanzi, RE ;

Bertram, L .

CELL, 2005, 120 (04) :545-555

[13] CSF tau and Aβ42 levels in patients with Down's syndrome [J].

Tapiola, T ;

Soininen, H ;

Pirttilä, T .

NEUROLOGY, 2001, 56 (07) :979-979

[14] Significant contribution of germline BRCA2 rearrangements in male breast cancer families [J].

Tournier, I ;

Bressac-de Paillerets, B ;

Sobol, H ;

Stoppa-Lyonnet, D ;

Lidereau, R ;

Barrois, M ;

Mazoyer, S ;

Coulet, F ;

Hardouin, A ;

Chompret, A ;

Lortholary, A ;

Chappuis, P ;

Bourdon, V ;

Bonadona, V ;

Maugard, C ;

Gilbert, B ;

Nogues, C ;

Frébourg, T ;

Tosi, M .

CANCER RESEARCH, 2004, 64 (22) :8143-8147

[15] CEREBRAL AMYLOID ANGIOPATHY WITHOUT AND WITH CEREBRAL HEMORRHAGES - A COMPARATIVE HISTOLOGICAL STUDY [J].

VONSATTEL, JPG ;

MYERS, RH ;

HEDLEYWHYTE, ET ;

ROPPER, AH ;

BIRD, ED ;

RICHARDSON, EP .

ANNALS OF NEUROLOGY, 1991, 30 (05) :637-649

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