TY - JOUR
T1 - hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes
AU - Lattante, Serena
AU - Le Ber, Isabelle
AU - Van Bortel, Inge
AU - Nicolas, Gael
AU - Bouya-Ahmed, Kawtar
AU - Camuzat, Agnès
AU - Wallon, David
AU - De Septenville, Anne
AU - Latouche, Morwena
AU - Kabashi, Edor
AU - Jornea, Ludmila
AU - Hannequin, Didier
AU - Brice, Alexis
AU - Auriacombe, Sophie
AU - Blanc, Frédéric
AU - Couratier, Philippe
AU - Didic, Mira
AU - Dubois, Bruno
AU - Duyckaerts, Charles
AU - Habert, Marie-Odile
AU - Golfier, Véronique
AU - Guedj, Eric
AU - Lacomblez, Lucette
AU - Levy, Richard
AU - Meininger, Vincent
AU - Michel, Bernard-François
AU - Pasquier, Florence
AU - Thomas-Anterion, Catherine
AU - Puel, Michèle
AU - Salachas, François
AU - Sellal, François
AU - Vercelletto, Martine
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - ALS
KW - Amyotrophic Lateral Sclerosis
KW - FTLD
KW - Frontotemporal Lobar Degeneration
KW - Multisystem proteinopathy
KW - hnRNPA1
KW - hnrRNPA2B1
KW - ALS
KW - Amyotrophic Lateral Sclerosis
KW - FTLD
KW - Frontotemporal Lobar Degeneration
KW - Multisystem proteinopathy
KW - hnRNPA1
KW - hnrRNPA2B1
UR - http://hdl.handle.net/10807/65597
U2 - 10.1016/j.neurobiolaging.2013.09.016
DO - 10.1016/j.neurobiolaging.2013.09.016
M3 - Article
VL - 35
SP - 934.e5-934.e5-6
JO - Neurobiology of Aging
JF - Neurobiology of Aging
SN - 0197-4580
ER -