281
Views
6
CrossRef citations to date
0
Altmetric
Genetics

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis

, , , , , , , , , , & show all
Pages 608-614 | Received 25 Feb 2013, Accepted 25 May 2013, Published online: 30 Jul 2013

References

  • Pratt AJ, Getzoff ED, Perry JJ. Amyotrophic lateral sclerosis: update and new developments. Degener Neurol Neuromuscul Dis. 2012;2:1–14.
  • Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?Nat Rev Neurol. 2011;7:603–15.
  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9orf72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56.
  • Orlacchio A, Babalini C, Borreca A, Patrono C, Massa R, Basaran S, et al. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain. 2010; 133:591–8.
  • Andersen P. Amyotrophic lateral sclerosis associated with mutations in the Cu/Zn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006;6:37–46.
  • Brown JA, Min J, Staropoli JF, Collin E, Bi S, Feng X, et al. SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience. Amyotroph Lateral Scler. 2012;13:217–22.
  • Kwon MJ, Baek W, Ki CS, Kim HY, Koh SH, Kim JW, et al. Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol Aging. 2012;33:1017–23.
  • Chiò A, Calvo A, Mazzini L, Cantello R, Mora G, Moglia C, et al. Extensive genetics of ALS: a population based study in Italy. Neurology. 2012;79:1983–9.
  • Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
  • Berdyński M, Kuźma-Kozakiewicz M, Ricci C, Kubiszewska J, Millecamps S, Salachas F, et al. Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family. Amyotroph Lateral Scler. 2012;13:132–6.
  • Akimoto C, Morita M, Atsuta N, Sobue G, Nakano I. High-resolution melting (HRM) analysis of the Cu/Zn superoxide dismutase (SOD1) gene in Japanese sporadic amyotrophic lateral sclerosis (SALS) patientsNeurol Res Int. 2011;165415.
  • Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, et al. Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. Arch Neurol. 2008;65: 1326–32.
  • Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel, Leigh P, et al. D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a cis-acting disease modifier in the recessive haplotype. Hum Mutat. 2002;20:473.
  • Kuzma-Kozakiewicz M, Kwieciński H. The genetics of amyotrophic lateral sclerosisPol Neurol Neurosurg. 2009; 43:538–49.
  • Syriani E, Morales M, Gamez J. The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree. J Neurol Sci. 2009;285:46–53.
  • Gamez J, Corbera-Bellalta M, Nogales G, Raguer N, García-Arumí E, Badia-Canto M, et al. Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?J Neurol Sci. 2006;247:21–8.
  • Segovia-Silvestre T, Andreu AL, Vives-Bauza C, Garcia-Arumi E, Cervera C, Gamez J. A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002;3:69–74.
  • Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, et al. Epidemiology of mutation in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210–21.
  • Li TM, Alberman E, Swash M. Comparison of sporadic and familial disease amongst 580 cases of motor neuron disease. J Neurol Neurosurg Psychiatry. 1988;51:778–84.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.