Article
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.
Neurobiology of aging - 1 Nov 2015
Le Ber Isabelle, De Septenville Anne, Millecamps Stéphanie, Camuzat Agnès, Caroppo Paola, Couratier Philippe, Blanc Frédéric, Lacomblez Lucette, Sellal François, Fleury Marie-Céline, Meininger Vincent, Cazeneuve Cécile, Clot Fabienne, Flabeau Olivier, LeGuern Eric, Brice Alexis
Abstract excerpt
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,...
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