title: FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.
abstract: 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 behavioral disorders and rapidly developed ALS. Although the frequency of mutations is low, our study enlarges the phenotypes associated with FUS mutations and shows that FUS could also play a direct pathogenic role in FTLD spectrum of diseases.
authors.affiliation: CRicm INSERM UMRS_975, Hôpital de la Pitié-Salpêtrière, Paris, France.
authors.forename: Oriane
authors.initials: O
authors.lastname: Broustal
authors.forename: Agnès
authors.initials: A
authors.lastname: Camuzat
authors.forename: Lena
authors.initials: L
authors.lastname: Guillot-Noël
authors.forename: Nathalie
authors.initials: N
authors.lastname: Guy
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Millecamps
authors.forename: Didier
authors.initials: D
authors.lastname: Deffond
authors.forename: Lucette
authors.initials: L
authors.lastname: Lacomblez
authors.forename: Véronique
authors.initials: V
authors.lastname: Golfier
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: François
authors.initials: F
authors.lastname: Salachas
authors.forename: William
authors.initials: W
authors.lastname: Camu
authors.forename: Mira
authors.initials: M
authors.lastname: Didic
authors.forename: Bruno
authors.initials: B
authors.lastname: Dubois
authors.forename: Vincent
authors.initials: V
authors.lastname: Meininger
authors.forename: Isabelle
authors.initials: I
authors.lastname: Le Ber
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications* / Q000235:genetics*; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: D034702:RNA-Binding Protein FUS