TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts

被引：71

作者：

Le Ber, Isabelle ^{[1
,2
,3
]}

De Septenville, Anne ^{[1
]}

Millecamps, Stephanie ^{[1
]}

Camuzat, Agnes ^{[1
]}

Caroppo, Paola ^{[1
,4
]}

Couratier, Philippe ^{[5
]}

Blanc, Frederic ^{[6
]}

Lacomblez, Lucette ^{[3
,7
]}

Sellal, Francois ^{[8
,9
,10
]}

Fleury, Marie-Celine ^{[11
]}

Meininger, Vincent ^{[3
]}

Cazeneuve, Cecile ^{[12
]}

Clot, Fabienne ^{[2
,12
]}

Flabeau, Olivier ^{[13
]}

LeGuern, Eric ^{[1
,12
]}

Brice, Alexis ^{[1
,3
,14
]}

机构：

[1] Univ Paris 06, Sorbonne Univ, Hop La Pitie Salpetriere, ICM,INSERM U1127,CNRS UMR 7225,UPMC P6,UMR S 1127, Paris, France

[2] Hop La Pitie Salpetriere, AP HP, Ctr Reference Demences Rares, F-75651 Paris 13, France

[3] Hop La Pitie Salpetriere, AP HP, Dept Malad Syst Nerveux, F-75651 Paris 13, France

[4] Besta Neurol Inst, Milan, Italy

[5] Ctr Hosp Univ CHU Dupuytren, Serv Neurol, Limoges, France

[6] Hop Univ Strasbourg, Serv Neurol, Unite Neuropsychol, Ctr Memoire Ressources & Rech, Strasbourg, France

[7] Univ Paris 06, INSERM, U1146, AP HP,Ctr Invest Clin CIC Neurosci,CIC 1422,LIB, Paris, France

[8] Ctr Memoire Ressources & Rech Alsace, Strasbourg, France

[9] Hosp Civils Colmar, Serv Neurol, Colmar, France

[10] Univ Strasbourg, INSERM, U1118, Strasbourg, France

[11] Hop Univ Strasbourg, Serv Neurol, Ctr SLA, Strasbourg, France

[12] Hop La Pitie Salpetriere, AP HP, Unite Fonct Neurogenet Mol & Cellulaire, Dept Genet & Cytogenet, F-75651 Paris 13, France

[13] CHU Bordeaux, Serv Neurol, Pessac, France

[14] Hop La Pitie Salpetriere, AP HP, Unite Fonct Genet Clin, Dept Genet & Cytogenet, F-75651 Paris 13, France

来源：

NEUROBIOLOGY OF AGING | 2015年 / 36卷 / 11期

关键词：

TBK1; Frontotemporal dementia (FTD); Amyotrophic lateral sclerosis (ALS); Frontotemporal lobar degeneration (FTLD); Optineurin; Loss of function; SQSTM1; MUTATIONS; PATHWAYS; CRITERIA;

D O I：

10.1016/j.neurobiolaging.2015.08.009

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：

TANK1-binding kinase 1 (TBK1) has been recently identified as a new amyotrophic lateral sclerosis (ALS) gene. Loss-of-function (LoF) mutations in TBK1 could be responsible for 0.4%-4% of ALS. Considering the strong genetic overlap existing between frontotemporal dementia (FTD) and ALS, we have evaluated the frequencies of TBK1 mutations in a cohort of French FTD and of ALS patients. We identified 5 LoF mutations, in 4 FTD-ALS and 1 ALS patients. We also identified 5 heterozygous missense variants, predicted to be deleterious, in 1 isolated FTD, 1 FTD-ALS, and 3 ALS cases. Our results demonstrate that TBK1 loss-of-function mutations are more frequent in patients with FTD-ALS (10.8%) than in isolated ALS. TBK1 should thus also be sequenced, after exclusion of C9orf72 mutation, in patients presenting FTD, particularly in cases secondarily associated with ALS. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：3116.e5 / 3116.e8

页数：4

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