Tbk1 mutation frequencies in french ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Tbk1 mutation frequencies in french frontotemporal dementia and amyotrophic lateral sclerosis cohorts
Auteur(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]
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]
Titre de la revue :
Neurobiology of aging
Nom court de la revue :
Neurobiol. Aging
Numéro :
36
Pagination :
3116.e5-3116.e8
Date de publication :
2015-11-01
ISSN :
1558-1497
Mot(s)-clé(s) en anglais :
Loss of function
Amyotrophic lateral sclerosis (ALS)
TBK1
Frontotemporal dementia (FTD)
Frontotemporal lobar degeneration (FTLD)
Optineurin
Amyotrophic lateral sclerosis (ALS)
TBK1
Frontotemporal dementia (FTD)
Frontotemporal lobar degeneration (FTLD)
Optineurin
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [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 ...
Lire la suite >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.Lire moins >
Lire la suite >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.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
CNRS
Inserm
Université de Lille
CNRS
Inserm
Université de Lille
Collections :
Équipe(s) de recherche :
Troubles cognitifs dégénératifs et vasculaires
Date de dépôt :
2019-11-27T14:28:46Z