title: hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.
abstract: hnRNPA2B1 and hnRNPA1 mutations have been recently identified by exome sequencing in three families presenting with multisystem proteinopathy (MSP), a rare complex phenotype associating frontotemporal lobar degeneration (FTLD), Paget disease of bone (PDB), inclusion body myopathy (IBM), and amyotrophic lateral sclerosis (ALS). No study has evaluated the exact frequency of these genes in cohorts of MSP or FTD patients so far. We sequenced both genes in 17 patients with MSP phenotypes, and in 60 patients with FTLD and FTLD-ALS to test whether mutations could be implicated in the pathogenesis of these disorders. No disease-causing mutation was identified. We conclude that hnRNPA2B1 and hnRNPA1 mutations are rare in MSP and FTLD spectrum of diseases, although further investigations in larger populations are needed.
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France; Assistance Publique-Hôpitaux de Paris, Département des maladies du système nerveux, Paris, France; Département de Neurologie, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Le Ber
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France.
authors.forename: Inge
authors.initials: I
authors.lastname: Van Bortel
authors.affiliation: Department of Neurology, INSERM U1079, Rouen, France; Department of Neurology, Institute for Research and Innovation in Biomedicine, Normandie Université, Rouen, France; Department of Neurology, Centre National de reference Maladie d'Alzheimer Jeune, Lille, Rouen, France; Département de Neurologie, CHU Charles Nicolle, Rouen, France.
authors.forename: Gael
authors.initials: G
authors.lastname: Nicolas
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France.
authors.forename: Kawtar
authors.initials: K
authors.lastname: Bouya-Ahmed
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Camuzat
authors.affiliation: Department of Neurology, INSERM U1079, Rouen, France; Department of Neurology, Institute for Research and Innovation in Biomedicine, Normandie Université, Rouen, France; Department of Neurology, Centre National de reference Maladie d'Alzheimer Jeune, Lille, Rouen, France; Département de Neurologie, CHU Charles Nicolle, Rouen, France.
authors.forename: David
authors.initials: D
authors.lastname: Wallon
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: De Septenville
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France.
authors.forename: Morwena
authors.initials: M
authors.lastname: Latouche
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France.
authors.forename: Serena
authors.initials: S
authors.lastname: Lattante
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France.
authors.forename: Edor
authors.initials: E
authors.lastname: Kabashi
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France.
authors.forename: Ludmila
authors.initials: L
authors.lastname: Jornea
authors.affiliation: Department of Neurology, INSERM U1079, Rouen, France; Department of Neurology, Institute for Research and Innovation in Biomedicine, Normandie Université, Rouen, France; Department of Neurology, Centre National de reference Maladie d'Alzheimer Jeune, Lille, Rouen, France; Département de Neurologie, CHU Charles Nicolle, Rouen, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.affiliation: INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France; Département de Neurologie, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France. Electronic address: alexis.brice@upmc.fr.
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D015331:Cohort Studies; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D000076245:Heterogeneous Nuclear Ribonucleoprotein A1; D034481:Heterogeneous-Nuclear Ribonucleoprotein Group A-B / Q000235:genetics*; D009154:Mutation; D018979:Myositis, Inclusion Body / Q000235:genetics; D010001:Osteitis Deformans / Q000235:genetics
chemical_list: D000076245:Heterogeneous Nuclear Ribonucleoprotein A1; D034481:Heterogeneous-Nuclear Ribonucleoprotein Group A-B; C439768:hnRNP A2
keywords: ALS; FTD; FTLD; IBMPFD; Multisystem proteinopathy; Paget disease of bone; Prion-like domain; SQSTM1; TDP-43; VCP; hnRNPA1; hnrRNPA2B1