Novel TARDBP mutations in Nordic ALS patients

Journal of Human Genetics

Volumn 57, Issue 5, 2012, Pages 316-319

  Chiang, Huei Hsin ^a   Andersen, Peter M ^b   Tysnes, Ole Bjørn ^c   Gredal, Ole ^d   Christensen, Peter B ^e   Graff, Caroline ^a,f  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UMEÅ UNIVERSITY   (Sweden)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^d Rehabilitation Centre for Neuromuscular Diseases   (Denmark)

^e AARHUS UNIVERSITY HOSPITAL   (Denmark)

^f KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

amyotrophic lateral sclerosis; frontotemporal dementia; motor neuron disease; TARDBP; TDP 43

Indexed keywords

TAR DNA BINDING PROTEIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DYSARTHRIA; DYSPHAGIA; EXON; FAMILY HISTORY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE FREQUENCY; GENE SEGREGATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; PARESIS; PATHOGENESIS; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL TIME;

AGED; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; DENMARK; DNA-BINDING PROTEINS; FINLAND; FRONTOTEMPORAL DEMENTIA; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION RATE; MUTATION, MISSENSE; NORWAY; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SWEDEN;

EID: 84861625779     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.24     Document Type: Article

References (19)

1. Wijesekera, L. C. & Leigh, P. N. Amyotrophic lateral sclerosis. Orphanet. J. Rare Dis. 4, 3 (2009
2. Andersen, P. M., Borasio, G. D., Dengler, R., Hardiman, O., Kollewe, K. & Leigh, P. N. et al. Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group. Amyotroph. Lateral Scler. 8, 195-213 (2007
3. Lomen-Hoerth, C., Anderson, T. & Miller, B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology. 59, 1077-1079 (2002
4. Phukan, J., Pender, N. P. & Hardiman, O. Cognitive impairment in amyotrophic lateral sclerosis. Lancet Neurol. 6, 994-1003 (2007
5. Strong, M. J., Grace, G. M., Freedman, M., Lomen-Hoerth, C., Woolley, S. & Goldstein, L. H. et al. Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. 10, 131-146 (2009
6. Arai, T., Hasegawa, M., Akiyama, H., Ikeda, K., Nonaka, T. & Mori, H. et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem. Biophys. Res. Commun. 351, 602-611 (2006
7. Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C. & Chou, T. T. et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 314, 130-133 (2006
8. Gitcho, M. A., Baloh, R. H., Chakraverty, S., Mayo, K., Norton, J. B. & Levitch, D. et al. TDP-43 A315T mutation in familial motor neuron disease. Ann. Neurol. 63, 535-538 (2008
9. Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J. & Vande Velde, C. et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat. Genet. 40, 572-574 (2008
10. Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C. & Rogelj, B. et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 319, 1668-1672 (2008
11. Yokoseki, A., Shiga, A., Tan, C. F., Tagawa, A., Kaneko, H. & Koyama, A. et al. TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann. Neurol. 63, 538-542 (2008
12. Benajiba, L., Le Ber, I., Camuzat, A., Lacoste, M., Thomas-Anterion, C. & Couratier, P. et al. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann. Neurol. 65, 470-473 (2009
13. Borroni, B., Bonvicini, C., Alberici, A., Buratti, E., Agosti, C. & Archetti, S. et al. Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. Hum. Mutat. 30, E974-E983 (2009
14. Borroni, B., Archetti, S., Del Bo, R., Papetti, A., Buratti, E. & Bonvicini, C. et al. TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course. Rejuvenation Res. 13, 509-517 (2010
15. Brooks, B. R. El Escorial world federation of neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on motor neuron diseases/amyotrophic lateral sclerosis of the world federation of neurology research group on neuromuscular diseases and the El Escorial Clinical limits of amyotrophic lateral sclerosis' workshop contributors. J. Neurol. Sci. 124 (Suppl), 96-107 (1994
16. Guerreiro, R. J., Schymick, J. C., Crews, C., Singleton, A., Hardy, J. & Traynor, B. J. TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS One 3, e2450 (2008
17. Winton, M. J., Van Deerlin, V. M., Kwong, L. K., Yuan, W., Wood, E. M. & Yu, C. E. et al. A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro. FEBS Lett. 582, 2252-2256 (2008
18. Corrado, L., Ratti, A., Gellera, C., Buratti, E., Castellotti, B. & Carlomagno, Y. et al. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum. Mutat. 30, 688-694 (2009
19. Gijselinck, I., Sleegers, K., Engelborghs, S., Robberecht, W., Martin, J. J. & Vandenberghe, R. et al. Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol. Aging. 30, 1329-1331 (2009)