Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation

被引:23
作者
Anheim, M. [1 ]
Hannequin, D. [2 ,3 ]
Boulay, C. [3 ,4 ]
Martin, C. [3 ]
Campion, D. [3 ]
Tranchant, C. [1 ]
机构
[1] Univ Strasbourg 1, Cent Hosp, Hop Civil, Dept Neurol, F-67000 Strasbourg, France
[2] INSERM, Cent Hosp, Dept Neurol, Rouen, France
[3] Univ Rouen, Cent Hosp, INSERM, U614, Rouen, France
[4] Hop E Muller, Serv Neurol, Mulhouse, France
关键词
D O I
10.1136/jnnp.2007.123026
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1414 / 1415
页数:4
相关论文
共 14 条
[1]  
Arango D, 2001, AM J MED GENET, V103, P138, DOI 10.1002/1096-8628(20011001)103:2<138::AID-AJMG1529>3.0.CO
[2]  
2-8
[3]   Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation [J].
Dermaut, B ;
Kumar-Singh, S ;
De Jonghe, C ;
Cruts, M ;
Löfgren, A ;
Lübke, U ;
Cras, P ;
Dom, R ;
De Deyn, PP ;
Martin, JJ ;
Van Broeckhoven, C .
BRAIN, 2001, 124 :2383-2392
[4]   High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes [J].
Finckh, U ;
Müller-Thomsen, T ;
Mann, U ;
Eggers, C ;
Marksteiner, J ;
Meins, W ;
Binetti, G ;
Alberici, A ;
Hock, C ;
Nitsch, RM ;
Gal, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) :110-117
[5]   Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease [J].
Hutton, M ;
Busfield, F ;
Wragg, M ;
Crook, R ;
PerezTur, J ;
Clark, RF ;
Prihar, G ;
Talbot, C ;
Phillips, H ;
Wright, K ;
Baker, M ;
Lendon, C ;
Duff, K ;
Martinez, A ;
Houlden, H ;
Nichols, A ;
Karran, E ;
Roberts, G ;
Roques, P ;
Rossor, M ;
Venter, JC ;
Adams, MD ;
Cline, RT ;
Phillips, CA ;
Fuldner, RA ;
Hardy, J ;
Goate, A .
NEUROREPORT, 1996, 7 (03) :801-805
[6]   Amyloid angiopathy and variability in amyloid β deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease [J].
Mann, DMA ;
Pickering-Brown, SM ;
Takeuchi, A ;
Iwatsubo, T .
AMERICAN JOURNAL OF PATHOLOGY, 2001, 158 (06) :2165-2175
[7]   EARLY-ONSET ALZHEIMERS-DISEASE IN 2 LARGE BELGIAN FAMILIES [J].
MARTIN, JJ ;
GHEUENS, J ;
BRUYLAND, M ;
CRAS, P ;
VANDENBERGHE, A ;
MASTERS, CL ;
BEYREUTHER, K ;
DOM, R ;
CEUTERICK, C ;
LUBKE, U ;
VANHEUVERSWIJN, H ;
DEWINTER, G ;
VAN BROECKHOVEN, C .
NEUROLOGY, 1991, 41 (01) :62-68
[8]   The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease [J].
Mattila, KM ;
Forsell, C ;
Pirttilä, T ;
Rinne, JO ;
Lehtimäki, T ;
Röyttä, M ;
Lilius, L ;
Eerola, A ;
St George-Hyslop, PH ;
Frey, H ;
Lannfelt, L .
ANNALS OF NEUROLOGY, 1998, 44 (06) :965-967
[9]   Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease [J].
Miklossy, J ;
Taddei, K ;
Suva, D ;
Verdile, G ;
Fonte, J ;
Fisher, C ;
Gnjec, A ;
Ghika, J ;
Suard, F ;
Mehta, PD ;
McLean, CA ;
Masters, CL ;
Brooks, WS ;
Martins, RN .
NEUROBIOLOGY OF AGING, 2003, 24 (05) :655-662
[10]   Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Aβ42 production [J].
Moehlmann, T ;
Winkler, E ;
Xia, XF ;
Edbauer, D ;
Murrelll, J ;
Capell, A ;
Kaether, C ;
Zheng, H ;
Ghetti, B ;
Haass, C ;
Steiner, H .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (12) :8025-8030