A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis

Volumn 10, Issue 2, 2009, Pages 118-122

  Zhao, Zhen Hua ^a   Chen, Wen Zu ^a   Wu, Zhi Ying ^a,b   Wang, Ning ^a   Zhao, Gui Xian ^b   Chen, Wan Jin ^a   Murong, Shen Xing ^a  

^a FUJIAN MEDICAL UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

Author keywords

Amyotrophic lateral sclerosis; Chinese; Senataxin; Sporadic

Indexed keywords

CHROMOSOME PROTEIN; SENATAXIN; UNCLASSIFIED DRUG;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SPORADIC AMYOTROPHIC LATERAL SCLEROSIS;

ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA PRIMERS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; RNA HELICASES;

EID: 62549146705     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.1080/17482960802572673     Document Type: Article

References (16)

1. Mitchell, JD and Borasio, GD. (2007) Amyotrophic lateral sclerosis. Lancet., 369, pp. 2031-2041.
2. Shaw, PJ. (2005) Molecular and cellular pathways of neurodegeneration in motor neuron disease. J Neurol Neurosurg Psychiatry., 76, pp. 1046-1057.
3. del Aguila, MA, Longstreth Jr, WT, McGuire, V., Koepsell, TD and van Belle, G. (2003) Prognosis in amyotrophic lateral sclerosis: A population-based study. Neurology, 60, pp. 813-819.
4. Pasinelli, P. and Brown, RH. (2006) Molecular biology of amyotrophic lateral sclerosis: Insights from genetics. Nat Rev Neurosci., 7, pp. 710-723.
5. Gros-Louis, F., Gaspar, C. and Rouleau, GA. (2006) Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochim Biophys Acta., 1762, pp. 956-972.
6. Sreedharan, J., Blair, IP, Tripathi, VB, Hu, X., Vance, C. Rogelj, B. et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science., 319, pp. 1668-1672.
7. Kabashi, E., Valdmanis, PN, Dion, P., Spiegelman, D., McConkey, BJ van der Velde, C. et al. (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet., 40, pp. 572-574.
8. van Deerlin, VM, Leverenz, JB, Bekris, LM, Bird, TD, Yuan, W. Elman, LB et al. (2008) TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: A genetic and histopathological analysis. Lancet Neurol., 7, pp. 409-416.
9. Chance, PF, Rabin, BA, Ryan, SG, Ding, Y., Scavina, M. Crain, B. et al. (1998) Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet., 62, pp. 633-640.
10. Chen, YZ, Bennett, CL, Huynh, HM, Blair, IP, Puls, I. Irobi, J. et al. (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet., 74, pp. 1128-1135.
11. Moreira, MC, Klur, S., Watanabe, M., Németh, AH, Le Ber, I Moniz, JC et al. (2004) Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet., 36, pp. 225-227.
12. Duquette, A., Roddier, K., McNabb-Baltar, J., Gosselin, I., St-Denis, A. Dicaire, MJ et al. (2005) Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Ann Neurol., 57, pp. 408-414.
13. Asaka, T., Yokoji, H., Ito, J., Yamaguchi, K. and Matsushima, A. (2006) Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. Neurology., 66, pp. 1580-1581.
14. Bassuk, AG, Chen, YZ, Batish, SD, Nagan, N., Opal, P. Chance, PF et al. (2007) Is autosomal dominant mutation of senataxin associated with tremor/ataxia syndrome. Neurogenetics., 8, pp. 45-49.
15. Wu, ZY, Zhao, GX, Chen, WJ, Wang, N., Wan, B. Lin, MT et al. (2006) Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med., 84, pp. 438-442.
16. Rabin, BA, Griffin, JW, Crain, BJ, Scavina, M., Chance, PF and Cornblath, DR. (1999) Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain., 122, pp. 1539-1550.