hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes

Serena Lattante, Isabelle Le Ber, Inge Van Bortel, Gael Nicolas, Kawtar Bouya-Ahmed, Agnès Camuzat, David Wallon, Anne De Septenville, Morwena Latouche, Edor Kabashi, Ludmila Jornea, Didier Hannequin, Alexis Brice, Sophie Auriacombe, Frédéric Blanc, Philippe Couratier, Mira Didic, Bruno Dubois, Charles Duyckaerts, Marie-Odile HabertVéronique Golfier, Eric Guedj, Lucette Lacomblez, Richard Levy, Vincent Meininger, Bernard-François Michel, Florence Pasquier, Catherine Thomas-Anterion, Michèle Puel, François Salachas, François Sellal, Martine Vercelletto

Risultato della ricerca: Contributo in rivistaArticolo in rivista

32 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)934.e5-934.e5-6
RivistaNeurobiology of Aging
Volume35
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • ALS
  • Amyotrophic Lateral Sclerosis
  • FTLD
  • Frontotemporal Lobar Degeneration
  • Multisystem proteinopathy
  • hnRNPA1
  • hnrRNPA2B1

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