title: Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.
abstract: Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are 2 adult onset neurological disorders with overlapping symptoms and clinical characteristics. It is well established that they share a common pathologic and genetic background. Recently, mutations in profilin 1 gene (PFN1) have been identified in patients with familial ALS, suggesting a role for this gene in the pathogenesis of the disease. Based on this, we hypothesized that mutations in PFN1 might also contribute to FTLD disease. We studied a French cohort of 165 ALS/FTLD patients, without finding any variant. We conclude that mutations in PFN1 are not a common cause for ALS/FTLD in France.
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: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Edor
authors.initials: E
authors.lastname: Kabashi
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005602:France / Q000453:epidemiology; D057174:Frontotemporal Lobar Degeneration / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D051304:Profilins / Q000235:genetics*
chemical_list: C495738:PFN1 protein, human; D051304:Profilins