title: TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.
abstract: Homozygous mutations in TREM2 have been recently identified by exome sequencing in families presenting with frontotemporal dementia (FTD)-like phenotype. No study has evaluated the exact frequency of TREM2 mutations in cohorts of FTD patients so far. We sequenced TREM2 in 175 patients with pure FTD, mostly French, to test whether mutations could be implicated in the pathogenesis of the disease. No disease-causing mutation was identified in 175 individuals from the French cohort of FTD patients. We did not identify the polymorphism p.R47H (rs75932628), strongly associated with an increased risk of developing Alzheimer's disease. We conclude that TREM2 mutations are extremely rare in patients with pure FTD, although further investigation in larger populations is needed.
authors.affiliation: Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Paris 6, Hôpital Pitié-Salpêtrière, Paris, France.
authors.forename: Serena
authors.initials: S
authors.lastname: Lattante
authors.forename: Isabelle
authors.initials: I
authors.lastname: Le Ber
authors.forename: Agnès
authors.initials: A
authors.lastname: Camuzat
authors.forename: Sarah
authors.initials: S
authors.lastname: Dayan
authors.forename: Chloé
authors.initials: C
authors.lastname: Godard
authors.forename: Inge
authors.initials: I
authors.lastname: Van Bortel
authors.forename: Anne
authors.initials: A
authors.lastname: De Septenville
authors.forename: Sorana
authors.initials: S
authors.lastname: Ciura
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Edor
authors.initials: E
authors.lastname: Kabashi
mesh_terms: D015331:Cohort Studies; D059472:Exome / Q000235:genetics; D005602:France / Q000208:ethnology; D057180:Frontotemporal Dementia / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D011971:Receptors, Immunologic / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D008562:Membrane Glycoproteins; D011971:Receptors, Immunologic; C498715:TREM2 protein, human