Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

被引:44
作者
Dermaut, B [1 ]
Kumar-Singh, S [1 ]
Rademakers, R [1 ]
Theuns, J [1 ]
Cruts, M [1 ]
Van Broeckhoven, C [1 ]
机构
[1] Univ Antwerp VIB, Dept Mol Genet, Neurodegenerat Brain Dis Grp, B-2610 Antwerp, Belgium
关键词
D O I
10.1016/j.tig.2005.09.005
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
In contrast to the common and genetically complex senile form of Alzheimer's disease (AD), the molecular genetic dissection of inherited presenile dementias has given important mechanistic insights into the pathogenesis of degenerative brain disease. Here, we focus on recent genotype-phenotype correlative studies in presenile AD and the frontotemporal dementia (FTD) complex of disorders. Together, these studies suggest that AD and FTD are linked in a genetic spectrum of presenile degenerative brain disorders in which tau appears to be the central player.
引用
收藏
页码:664 / 672
页数:9
相关论文
共 87 条
[1]   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
[2]  
AUER IA, 1995, ACTA NEUROPATHOL, V90, P547
[3]   Association of an extended haplotype in the tau gene with progressive supranuclear palsy [J].
Baker, M ;
Litvan, I ;
Houlden, H ;
Adamson, J ;
Dickson, D ;
Perez-Tur, J ;
Hardy, J ;
Lynch, T ;
Bigio, E ;
Hutton, M .
HUMAN MOLECULAR GENETICS, 1999, 8 (04) :711-715
[4]   PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: effects of FAD mutations [J].
Baki, L ;
Shioi, J ;
Wen, P ;
Shao, ZP ;
Schwarzman, A ;
Gama-Sosa, M ;
Neve, R ;
Robakis, NK .
EMBO JOURNAL, 2004, 23 (13) :2586-2596
[5]  
Baumeister R, 1997, Genes Funct, V1, P149
[6]   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
[7]   Genetic evidence for the involvement of tau in progressive supranuclear palsy [J].
Conrad, C ;
Andreadis, A ;
Trojanowski, JQ ;
Dickson, DW ;
Kang, D ;
Chen, XH ;
Wiederholt, W ;
Hansen, L ;
Masliah, E ;
Thal, LJ ;
Katzman, R ;
Xia, Y ;
Saitoh, T .
ANNALS OF NEUROLOGY, 1997, 41 (02) :277-281
[8]   A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 [J].
Crook, R ;
Verkkoniemi, A ;
Perez-Tur, J ;
Mehta, N ;
Baker, M ;
Houlden, H ;
Farrer, M ;
Hutton, M ;
Lincoln, S ;
Hardy, J ;
Gwinn, K ;
Somer, M ;
Paetau, A ;
Kalimo, H ;
Ylikoski, R ;
Pöyhönen, M ;
Kucera, S ;
Haltia, M .
NATURE MEDICINE, 1998, 4 (04) :452-455
[9]   Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region [J].
Cruts, M ;
Rademakers, R ;
Gijselinck, I ;
van der Zee, J ;
Dermaut, B ;
de Pooter, T ;
de Rijk, P ;
Del-Favero, J ;
van Broeckhoven, C .
HUMAN MOLECULAR GENETICS, 2005, 14 (13) :1753-1762
[10]   Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein [J].
De Strooper, B ;
Saftig, P ;
Craessaerts, K ;
Vanderstichele, H ;
Guhde, G ;
Annaert, W ;
Von Figura, K ;
Van Leuven, F .
NATURE, 1998, 391 (6665) :387-390