Article
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.
Journal of Alzheimer's disease : JAD - 1 Jan 2010
Broustal Oriane, Camuzat Agnès, Guillot-Noël Lena, Guy Nathalie, Millecamps Stéphanie, Deffond Didier, Lacomblez Lucette, Golfier Véronique, Hannequin Didier, Salachas François, Camu William, Didic Mira, Dubois Bruno, Meininger Vincent, Le Ber Isabelle, Brice Alexis
Abstract excerpt
Rapid advances were made in the knowledge of amyotrophic lateral sclerosis (ALS) with the recent identification of TARDBP and FUS mutations in familial ALS. More recently, FUS-positive inclusions were found in a subset of TDP-43-negative frontotemporal lobar degeneration (FTLD) prompting us to analyze FUS in FTLD and FTLD-ALS patients. The p.Arg521His mutation was identified in a patient who initially had...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.