The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease

被引：72

作者：

Rogaeva, E ^{[1
]}

机构：

[1] Univ Toronto, Ctr Res Neurodegenetat Dis, Toronto, ON M5S 3H2, Canada

来源：

NEUROMOLECULAR MEDICINE | 2002年 / 2卷 / 01期

关键词：

presenelin; APP; mutation; Alzheimer's disease;

D O I：

10.1385/NMM:2:1:01

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Approximately half of the Alzheimer's disease (AD) cases that are associated with early onset appear to be transmitted as a pure genetic, autosomal dominant trait. Genetic analyses of these pedigrees have found three causal genes: betaAPP, presenilin 1 (PSI), and presenilin 2 (PS2). This review provides an update on the pathological consequences of mutations in early-onset AD genes, the phenotypic heterogeneity of those cases, and future directions for research and clinical practice.

引用

页码：1 / 10

页数：10

共 74 条

[1] The gene encoding DRAP (BACE2), a glycosylated transmembrane protein of the aspartic protease family, maps to the Down critical region [J].

Acquati, F ;

Accarino, M ;

Nucci, C ;

Fumagalli, P ;

Jovine, L ;

Ottolenghi, S ;

Taramelli, R .

FEBS LETTERS, 2000, 468 (01) :59-64

[2] A presenilin 1 mutation associated with familial frontotemporal dementia inhibits γ-secretase cleavage of APP and notch [J].

Amtul, Z ;

Lewis, PA ;

Piper, S ;

Crook, R ;

Baker, M ;

Findlay, K ;

Singleton, A ;

Hogg, M ;

Younkin, L ;

Younkin, SG ;

Hardy, J ;

Hutton, M ;

Boeve, BF ;

Tang-Wai, D ;

Golde, TE .

NEUROBIOLOGY OF DISEASE, 2002, 9 (02) :269-273

[3] Unusual phenotypic alteration of β amyloid precursor protein (βAPP) maturation by a new Val-715→Met βAPP-770 mutation responsible for probable early-onset Alzheimer's disease [J].

Ancolio, K ;

Dumanchin, C ;

Barelli, H ;

Warter, JM ;

Brice, A ;

Campion, D ;

Frébourg, T ;

Checler, F .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (07) :4119-4124

[4] A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families [J].

Athan, ES ;

Williamson, J ;

Ciappa, A ;

Santana, V ;

Romas, SN ;

Lee, JH ;

Rondon, H ;

Lantigua, RA ;

Medrano, M ;

Torres, M ;

Arawaka, S ;

Rogaeva, E ;

Song, YQ ;

Sato, C ;

Kawarai, T ;

Fafel, KC ;

Boss, MA ;

Seltzer, WK ;

Stern, Y ;

St George-Hyslop, P ;

Tycko, B ;

Mayeux, R .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2001, 286 (18) :2257-2263

[5] Expression analysis of BACE2 in brain and peripheral tissues [J].

Bennett, BD ;

Babu-Khan, S ;

Loeloff, R ;

Louis, JC ;

Curran, E ;

Citron, M ;

Vassar, R .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (27) :20647-20651

[6] Wide range in age of onset for chromosome 1-related familial Alzheimer's disease [J].

Bird, TD ;

LevyLahad, E ;

Poorkaj, P ;

Sharma, V ;

Nemens, E ;

Lahad, A ;

Lampe, TH ;

Schellenberg, GD .

ANNALS OF NEUROLOGY, 1996, 40 (06) :932-936

[7] Presenilin-1 differentially facilitates endoproteolysis of the β-amyloid precursor protein and Notch [J].

Capell, A ;

Steiner, H ;

Romig, H ;

Keck, S ;

Baader, M ;

Grim, MG ;

Baumeister, R ;

Haass, C .

NATURE CELL BIOLOGY, 2000, 2 (04) :205-211

[8] The multiple paradoxes of presenilins [J].

Checler, F .

JOURNAL OF NEUROCHEMISTRY, 2001, 76 (06) :1621-1627

[9] EXCESSIVE PRODUCTION OF AMYLOID BETA-PROTEIN BY PERIPHERAL CELLS OF SYMPTOMATIC AND PRESYMPTOMATIC PATIENTS CARRYING THE SWEDISH FAMILIAL ALZHEIMER-DISEASE MUTATION [J].

CITRON, M ;

VIGOPELFREY, C ;

TEPLOW, DB ;

MILLER, C ;

SCHENK, D ;

JOHNSTON, J ;

WINBLAD, B ;

VENIZELOS, N ;

LANNFELT, L ;

SELKOE, DJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (25) :11993-11997

[10] Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice [J].

Citron, M ;

Westaway, D ;

Xia, WM ;

Carlson, G ;

Diehl, T ;

Levesque, G ;

JohnsonWood, K ;

Lee, M ;

Seubert, P ;

Davis, A ;

Kholodenko, D ;

Motter, R ;

Sherrington, R ;

Perry, B ;

Yao, H ;

Strome, R ;

Lieberburg, I ;

Rommens, J ;

Kim, S ;

Schenk, D ;

Fraser, P ;

Hyslop, PS ;

Selkoe, DJ .

NATURE MEDICINE, 1997, 3 (01) :67-72

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