Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

被引：50

作者：

Gijselinck, Ilse

Sleegers, Kristel

Engelborghs, Sebastiaan ^{[2
]}

Robberecht, Wim ^{[3
]}

Martin, Jean-Jacques

Vandenberghe, Rik ^{[4
]}

Sciot, Raf ^{[5
]}

Dermaut, Bart ^{[6
]}

Goossens, Dirk

van der Zee, Julie

De Pooter, Tim

Del-Favero, Jurgen

Santens, Patrick ^{[6
]}

De Jonghe, Peter ^{[7
]}

De Deyn, Peter P. ^{[2
]}

Van Broeckhoven, Christine

Cruts, Marc ^{[1
]}

机构：

[1] Univ Antwerp CDE, Dept Mol Genet, VIB, Neurodegenerat Brain Dis Grp, B-2610 Antwerp, Belgium

[2] Middelheim Hosp, Dept Neurol, Memory Clin, B-2020 Antwerp, Belgium

[3] Katholieke Univ Leuven, Univ Hosp Gasthuisberg, Div Neurol, B-3000 Louvain, Belgium

[4] Katholieke Univ Leuven, Univ Hosp Gasthuisberg, Dept Neurol, B-3000 Louvain, Belgium

[5] Katholieke Univ Leuven, Univ Hosp Gasthuisberg, Dept Pathol, B-3000 Louvain, Belgium

[6] Univ Ghent, State Univ Ghent Hosp, Dept Neurol, B-9000 Ghent, Belgium

[7] Univ Antwerp Hosp, Div Neurol, B-2610 Antwerp, Belgium

来源：

NEUROBIOLOGY OF AGING | 2009年 / 30卷 / 08期

关键词：

TDP-43; TARDBP; Frontotemporal dementia; Amyotrophic lateral sclerosis; Genetics; FRONTOTEMPORAL LOBAR DEGENERATION; AMYOTROPHIC-LATERAL-SCLEROSIS;

D O I：

10.1016/j.neurobiolaging.2007.11.002

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

The nuclear TAR DNA binding protein (TDP-43) is deposited in ubiquitin-positive inclusions in frontotemporal dementia (FTD) and annyotrophic lateral sclerosis (ALS), two clinicopathologically overlapping neurodegenerative diseases. In this study we excluded mutations and copy number variations in the gene encoding TDP-43 (TARDBP) from an extended series of 173 FTD and 237 ALS patients. Further, we did Dot identify association of common genetic variants in these patients. Our data implicate that TDP-43 has no primary genetic role in the pathophysiological mechanisms underlying central nervous system neurodegeneration in these diseases. (C) 2007 Elsevier Inc. All rights reserved.

引用

页码：1329 / 1331

页数：3

共 4 条

[1] TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis [J].

Arai, Tetsuaki ;

Hasegawa, Masato ;

Akiyama, Haruhiko ;

Ikeda, Kenji ;

Nonaka, Takashi ;

Mori, Hiroshi ;

Mann, David ;

Tsuchiya, Kuniaki ;

Yoshida, Marl ;

Hashizume, Yoshio ;

Oda, Tatsuro .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2006, 351 (03) :602-611

[2] Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis [J].

Neumann, Manuela ;

Sampathu, Deepak M. ;

Kwong, Linda K. ;

Truax, Adam C. ;

Micsenyi, Matthew C. ;

Chou, Thomas T. ;

Bruce, Jennifer ;

Schuck, Theresa ;

Grossman, Murray ;

Clark, Christopher M. ;

McCluskey, Leo F. ;

Miller, Bruce L. ;

Masliah, Eliezer ;

Mackenzie, Ian R. ;

Feldman, Howard ;

Feiden, Wolfgang ;

Kretzschmar, Hans A. ;

Trojanowski, John Q. ;

Lee, Virginia M. -Y. .

SCIENCE, 2006, 314 (5796) :130-133

[3] TDP-43 gene analysis in frontotemporal lobar degeneration [J].

Rollinson, Sara ;

Snowden, Julie S. ;

Neary, David ;

Morrison, Karen E. ;

Mann, David M. A. ;

Pickering-Brown, Stuart M. .

NEUROSCIENCE LETTERS, 2007, 419 (01) :1-4

[4]

SCHUMACHER A, 2007, NEUROBIOL AGING

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