277
Views
14
CrossRef citations to date
0
Altmetric
Original Article

G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype

, , , , , , , , & show all
Pages 210-215 | Received 23 Mar 2009, Accepted 25 Apr 2009, Published online: 26 Feb 2010

References

  • Brown RH, Jr. SOD1 aggregates in ALS: cause, correlate or consequence?. Nat Med. 1998; 4: 1362–4
  • Beleza-Meireles A, Al-Chalabi A. Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives. Amyotroph Lateral Scler. 2009; 10: 1–14
  • Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology. 2008; 70: 144–52
  • Vance C, Rogelj B, Hortobágyi T, de Vos KJ, Nishimura AL, Sreedharan J, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009; 323: 1208–11
  • Kwiatkowski TJ, Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009; 323: 1205–8
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993; 362: 59–62
  • Wroe R, Wai-Ling Butler A, Andersen PM, Powell JF, Al-Chalabi A. ALSOD: the Amyotrophic Lateral Sclerosis Online Database. Amyotroph Lateral Scler. 2008; 9: 249–50
  • Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the Cu/Zn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006; 6: 37–46
  • Hayward C, Swingler RJ, Simpson SA, Brock DJH. A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis. Am J Hum Genet. 1996; 59: 1165–7
  • Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel Leigh P, Powell JF, 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
  • Broom WJ, Johnson DV, Auwarter KE, Iafrate AJ, Russ C, Al-Chalabi A, et al. SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in Asia. Neurosci Lett. 2008; 430: 241–5
  • Rosen DR. A shared chromosome-21 haplotype among amyotrophic lateral sclerosis families with the A4V SOD1 mutation. Clin Genet. 2004; 66: 247–50
  • Saeed, M, Yang, Y, Deng, HX, Hung, WY, Siddique, N, Dellefave, L, , et al. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology. 2009, doi:10.1212/01.wnl.0000343509.76828.2av1.
  • Niemann S, Joos H, Meyer T, Vielhaber S, Reuner U, Gleichmann M, et al. Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect. J Neurol Neurosurg Psychiatry. 2004; 75: 1186–8
  • Nishimura AL, Al-Chalabi A, Zatz M. A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum Genet. 2005; 118: 499–500
  • Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, et al. ANG mutations segregate with familial and‘sporadic’ amyotrophic lateral sclerosis. Nat Genet. 2006; 38: 411–3
  • Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, et al. SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicentre Italian study. J Neurol. 2005; 252: 782–8
  • Brooks, BR, Miller, RG, Swash, M, Munsat, TL; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
  • Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001; 68: 978–89
  • Stephens M, Donnelly P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet. 2003; 73: 1162–9
  • Reeve JP, Rannala B. DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinformatics. 2002; 18: 894–5
  • Corrado L, D'Alfonso S, Bergamaschi L, Testa L, Leone M, Nasuelli N, et al. SOD1 gene mutations in Italian patients with sporadic amyotrophic lateral sclerosis (ALS). Neuromuscul Disord. 2006; 16: 800–4
  • Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997; 41: 210–21
  • Rainero I, Pinessi L, Tsuda T, Vignocchi MG, Vaula G, Calvi L, et al. SOD1 missense mutation in an Italian family with ALS. Neurology. 1994; 44: 347–9
  • Chiò A, Traynor BJ, Lombardo F, Fimognari M, Calvo A, Ghiglione P, et al. Prevalence of SOD1 mutations in the Italian ALS population. Neurology. 2008; 70: 533–7
  • Lindberg MJ, Byström R, Boknäs N, Andersen PM, Oliveberg M. Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS) associated SOD1 mutants. Proc Natl Acad Sci U S A. 2005; 102: 9754–9
  • Andersen PM, Restagno G, Stewart HG, Chiò A. Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene. Ann Neurol. 2004; 55: 298–9
  • Nogales-Gadea G, Garcia-Arumi E, Andreu AL, Cervera C, Gamez J. A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance. J Neurol Sci. 2004; 219: 1–6
  • Aoki M, Abe K, Houi K, Ogasawara M, Matsubara Y, Kobayashi T, et al. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. Ann Neurol. 1995; 37: 676–9
  • Murakami T, Warita H, Hayashi T, Sato K, Manabe Y, Mizuno S, et al. A novel SOD1 gene mutation in familial ALS with low penetrance in females. J Neurol Sci. 2001; 189: 45–7
  • Kim HY, Ki CS, Koh SH, Park KH, Sunwoo IN, Kim SH. Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family. Amyotroph Lateral Scler. 2007; 8: 73–8
  • Ceroni M, Malaspina A, Poloni TE, Alimonti D, Rognoni F, Habgood J, et al. Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation. Neurology. 1999; 53: 1064–71

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.