Title :

Tbk1 mutation frequencies in french frontotemporal dementia and amyotrophic lateral sclerosis cohorts

Author(s) :

Le Ber, Isabelle [Auteur]
De Septenville, Anne [Auteur]
Millecamps, Stéphanie [Auteur]
Camuzat, Agnes [Auteur]
Caroppo, Paola [Auteur]
Couratier, Philippe [Auteur]
Blanc, Frederic [Auteur]
Lacomblez, Lucette [Auteur]
Sellal, François [Auteur]
Fleury, Marie-Celine [Auteur]
Meininger, Vincent [Auteur]
Cazeneuve, Cecile [Auteur]
Clot, Fabienne [Auteur]
Flabeau, Olivier [Auteur]
Leguern, Eric [Auteur]
Brice, Alexis [Auteur]

Journal title :

Neurobiology of aging

Abbreviated title :

Neurobiol. Aging

Volume number :

36

Pages :

3116.e5-3116.e8

Publication date :

2015-11-01

ISSN :

1558-1497

English keyword(s) :

Loss of function
Amyotrophic lateral sclerosis (ALS)
TBK1
Frontotemporal dementia (FTD)
Frontotemporal lobar degeneration (FTLD)
Optineurin

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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 ...
Show more >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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
CNRS
Inserm
Université de Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Research team(s) :

Troubles cognitifs dégénératifs et vasculaires

Submission date :

2019-11-27T14:28:46Z