No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy

Neurobiology of Aging

Volumn 35, Issue 8, 2014, Pages

  Seelen, Meinie ^a   Visser, Anne E ^a   Overste, Daniel J ^a   Kim, Hong J ^b   Palud, A ^b   Wong, Tsz H ^c   van Swieten, John C ^c,d   Scheltens, Philip ^d   Voermans, Nicol C ^e   Baas, Frank ^f   de Jong, J M B V ^f   van der Kooi, Anneke J ^f   de Visser, Marianne ^f   Veldink, Jan H ^a   Taylor, J Paul ^b   Van Es, Michael A ^a   van den Berg, Leonard H ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY   (Netherlands)

^f UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Amyotrophic lateral sclerosis (ALS); Frontotemporal dementia (FTD); HnRNPA1; HnRNPA2B1; Inclusion body myopathy (IBM)

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HNRNP A1; HNRNPAB PROTEIN, HUMAN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENETICS; HNRNPA1 GENE; HNRNPA2B1 GENE; HUMAN; INCLUSION BODY MYOPATHY; INCLUSION BODY MYOSITIS; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MUTATION; MYOPATHY; NETHERLANDS; ONSET AGE; PAGET BONE DISEASE; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN DOMAIN; RNA SPLICING; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; COHORT STUDIES; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC ASSOCIATION STUDIES; GENETICS; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP A-B; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOSITIS, INCLUSION BODY; NETHERLANDS; OSTEITIS DEFORMANS;

EID: 84899904528     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.01.152     Document Type: Article

References (9)

1. Calini D., Corrado L., Del Bo R., Gagliardi S., Pensato V., Verde F., Corti S., Mazzini L., Milani P., Castellotti B., Bertolin C., Soraru G., Cereda C., Comi G.P., D'Alfonso S., Gellera C., Ticozzi N., Landers J.E., Ratti A., Silani V. Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis. Neurobiol. Aging 2013, 34:2695.e11-2695.e12. SLAGEN Consortium.
2. Huisman M.H., de Jong S.W., van Doormaal P.T., Weinreich S.S., Schelhaas H.J., van der Kooi A.J., de Visser M., Veldink J.H., van den Berg L.H. Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J.Neurol. Neurosurg. Psychiatry 2011, 82:1165-1170.
3. 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. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 2013, 495:467-473.
4. King O.D., Gitler A.D., Shorter J. The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease. Brain Res. 2012, 1462:61-80.
5. Le Ber I., Van Bortel I., Nicolas G., Bouya-Ahmed K., Camuzat A., Wallon D., De Septenville A., Latouche M., Lattante S., Kabashi E., Jornea L., Hannequin D., Brice A. hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. Neurobiol. Aging 2014, 35:934.e5-934.e6. the French research Network on FTLD/FTLD-ALS. http://dx.doi.org/10.1016/j.neurobiolaging.2013.09.016.
6. Neumann M., Sampathu D.M., Kwong L.K., Truax A.C., Micsenyi M.C., Chou T.T., Bruce J., Schuck T., Grossman M., Clark C.M., McCluskey L.F., Miller B.L., Masliah E., Mackenzie I.R., Feldman H., Feiden W., Kretzschmar H.A., Trojanowski J.Q., Lee V.M. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006, 314:130-133.
7. van Es M.A., Dahlberg C., Birve A., Veldink J.H., van den Berg L.H., Andersen P.M. Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis. J.Neurol. Neurosurg. Psychiatry 2010, 81:562-566.
8. 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.
9. Weihl C.C., Temiz P., Miller S.E., Watts G., Smith C., Forman M., Hanson P.I., Kimonis V., Pestronk A. TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. J.Neurol. Neurosurg. Psychiatry 2008, 79:1186-1189.