HnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes

Neurobiology of Aging

Volumn 35, Issue 4, 2014, Pages 934.e5-934.e6

  Le Ber, Isabelle ^a,b,c,d,e   Van Bortel, Inge ^a,b,c   Nicolas, Gael ^a,f,g,h   Bouya Ahmed, Kawtar ^a,b,c   Camuzat, Agnès ^a,b,c   Wallon, David ^a,f,g,h   De Septenville, Anne ^a,b,c   Latouche, Morwena ^a,b,c   Lattante, Serena ^a,b,c   Kabashi, Edor ^a,b,c   Jornea, Ludmila ^a,b,c   Hannequin, Didier ^a,f,g,h   Brice, Alexis ^a,b,c,e   Auriacombe, Sophie ⁱ   Blanc, Frédéric ^j   Couratier, Philippe ^k   Didic, Mira ^l   Dubois, Bruno ^e   Duyckaerts, Charles ^e   Habert, Marie Odile ^e   Golfier, Véronique ^m   Guedj, Eric ⁿ   Lacomblez, Lucette ^e   Levy, Richard ^o   Meininger, Vincent ^e   Michel, Bernard François ^p   Pasquier, Florence ^q   Thomas Anterion, Catherine ^r   Puel, Michèle ^s   Salachas, François ^e   Sellal, François ^t   Vercelletto, Martine ^u   more..

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY OF ROUEN   (France)

^g Centre National de Référence Maladie d'Alzheimer du Sujet Jeune   (France)

^h HÔPITAL CHARLES NICOLLE   (France)

ⁱ HÔPITAL PELLEGRIN   (France)

^j HÔPITAL CIVIL   (France)

^k LIMOGES UNIVERSITY HOSPITAL   (France)

^l TIMONE HOSPITAL   (France)

^m RENNES UNIVERSITY HOSPITAL   (France)

ⁿ ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

^o HÔPITAL SAINT ANTOINE   (France)

^p HÔPITAL SAINTE MARGUERITE   (France)

^q LILLE UNIVERSITY HOSPITAL   (France)

^r SERVICE DE NEUROLOGIE   (France)

^s CHU RANGUEIL   (France)

^t Service de Neurologie/CH de Colmar   (France)

^u CHU de Nantes   (France)

more..

Author keywords

ALS; FTD; FTLD; HnRNPA1; HnrRNPA2B1; IBMPFD; Multisystem proteinopathy; Paget disease of bone; Prion like domain; SQSTM1; TDP 43; VCP

Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; DISEASE ASSOCIATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FRONTOTEMPORAL DEMENTIA; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HNRNPA1 GENE; HNRNPA2B1 GENE; HUMAN; INCLUSION BODY MYOPATHY; MULTISYSTEM PROTEINOPATHY; MYOPATHY; PAGET BONE DISEASE; PHENOTYPE; PRIORITY JOURNAL;

ALS; FTD; FTLD; HNRNPA1; HNRRNPA2B1; IBMPFD; MULTISYSTEM PROTEINOPATHY; PAGET DISEASE OF BONE; PRION-LIKE DOMAIN; SQSTM1; TDP-43; VCP;

AMYOTROPHIC LATERAL SCLEROSIS; COHORT STUDIES; FRONTOTEMPORAL LOBAR DEGENERATION; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP A-B; MUTATION; MYOSITIS, INCLUSION BODY; OSTEITIS DEFORMANS;

EID: 85058205678     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.09.016     Document Type: Article

References (7)

1. Benatar M., Wuu J., Fernandez C., Weihl C.C., Katzen H., Steele J., Oskarsson B., Taylor J.P. Motor neuron involvement in multisystem proteinopathy: implications for ALS. Neurology 2013, 80:1874-1880.
2. Fecto F., Yan J., Vemula S.P., Liu E., Yang Y., Chen W., Zheng J.G., Shi Y., Siddique N., Arrat H., Donkervoort S., Ajroud-Driss S., Sufit R.L., Heller S.L., Deng H.X., Siddique T. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 2011, 68:1440-1446.
3. Johnson J.O., Mandrioli J., Benatar M., Abramzon Y., Van Deerlin V.M., Trojanowski J.Q., Gibbs J.R., Brunetti M., Gronka S., Wuu J., Ding J., McCluskey L., Martinez-Lage M., Falcone D., Hernandez D.G., Arepalli S., Chong S., Schymick J.C., Rothstein J., Landi F., Wang Y.D., Calvo A., Mora G., Sabatelli M., Monsurrò M.R., Battistini S., Salvi F., Spataro R., Sola P., Borghero G., ITALSGEN Consortium, Galassi G., Scholz S.W., Taylor J.P., Restagno G., Chiò A., Traynor B.J. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010, 68:857-864.
4. Kim, H.J., Kim, N.C., Wang, Y.D., Scarborough, E.A., Moore, J., Diaz, Z., MacLea, K.S., Freibaum, B., Li, S., Molliex, A., Kanagaraj, A.P., Carter, R., Boylan, K.B., Wojtas, A.M., Rademakers, R., Pinkus, J.L., Greenberg, S.A., Trojanowski, J.Q., Traynor, B.J., Smith, B.N., Topp, S., Gkazi, A.S., Miller, J., Shaw, C.E., Kottlors, M., Kirschner, J., Pestronk, A., Li, Y.R., Ford, A.F., Gitler, A.D., Benatar, M., King, O.D., Kimonis, V.E., Ross, E.D., Weihl, C.C., Shorter, J., Taylor, J.P. 2013. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495, 467-473.
5. Le Ber, I., Camuzat, A., Guerreiro, R., Bouya-Ahmed, K., Bras, J., Nicolas, G., Gabelle, A., Didic, M., De Septenville, A., Millecamps, S., Lenglet, T., Latouche, M., Kabashi, E., Campion, D., Hannequin, D., Hardy, J., Brice, A., and the French clinical and genetic research network on FTD/FTD-ALS. SQSTM1 mutations in French FTD and FTD-ALS patients [e-pub ahead of print]. JAMA Neurol. doi:10.1001/jamaneurol.2013.3849.
6. Rubino E., Rainero I., Chiò A., Rogaeva E., Galimberti D., Fenoglio P., Grinberg Y., Isaia G., Calvo A., Gentile S., Bruni A.C., St George-Hyslop P.H., Scarpini E., Gallone S., Pinessi L., TODEM Study Group SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 2012, 79:1556-1562.
7. Watts G.D., Wymer J., Kovach M.J., Mehta S.G., Mumm S., Darvish D., Pestronk A., Whyte M.P., Kimonis V.E. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet. 2004, 36:377-381.