296
Views
87
CrossRef citations to date
0
Altmetric
Research Article

Current status of SOD1 mutations in familial amyotrophic lateral sclerosis

Pages 83-89 | Published online: 10 Jul 2009

  • McGuire V, Longstreth WT, Koepsell TD, van Belle G. Incidence of amyotrophic lateral sclerosis in three counties in western Washington state. Neurology 1996; 47: 571-573.
  • Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Incidence and prevalence of ALS in Ireland, 1995-1997: A population-based study. Neurology 1999; 52: 504-509.
  • Tandan R, Bradley WG. Amyotrophic lateral sclerosis. Part 1. Clinical features, pathology, and ethical issues in management. Ann Neurol 1985; 18: 271-280.
  • Emery AEH, Holloway S. Familial motor neuron disease. In: Rowland EP, ed. Human Motor Neuron Diseases. Raven Press, New York 1982: 139-147.
  • Siddique T, Pericak-Vance MA, Brooks BR, et al. Linkage analysis in familial amyotrophic lateral sclerosis. Neurology 1989; 39: 919-925.
  • Junej a T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis in familial amyotrophic lateral sclerosis: Progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn Superoxide dismutase. Neurology 1997; 48: 55-57.
  • Mulder DW, Kurland ET, Offord KP, Beard CM. Familial adult motor neuron disease: Amyotrophic lateral sclerosis. Neurology 1986; 36: 511-517.
  • Siddique T. Molecular genetics of familial amyotrophic lateral sclerosis. Adv Neurol 1991; 56: 227-231.
  • Williams DB, Floate DA, Leicester J. Familial motor neuron disease: differing penetrance in large pedigrees. J Neurol Sci 1988; 86: 215-230.
  • Applebaum JS, Roos RP, Salazar-Grueso EF, et al. lntrafamilial heterogeneity in hereditary motor neuron disease. Neurology 1992; 42: 1488-1492.
  • Siddique T, Figlewicz DA, Pericak-Vance MA, et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Eng J Med 1991; 324: 1381-1384.
  • Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn Superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59-63; 1047-1051.
  • Deng H-X, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn Superoxide dismutase. Science 1993; 261: 1047-1051.
  • Sjalander A, Beckman G, Deng HX, Iqbal Z, Siddique T. The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland. Hum Mol Genet 1995; 4: 1105-1108.
  • Esteban L, Rosen DR, Bowling AC, et al. Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn Superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 997-998.
  • Reaume AG, Elliott JF, Huffman EK, et al. Motor neurons in Cu/Zn Superoxide dismutase deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nature Genet 1996; 13: 43-47.
  • Gurney ME, Pu H, Chiu AY, et al. Motor neuron degeneration in mice that express a human Cu, Zn Superoxide dismutase mutation. Science 1994; 264: 1772-1775.
  • Wiedau-Pazos M, Gotto JJ, Rabizadeh S, et al. Altered reactivity of Superoxide dismutase in familial amyotrophic lateral sclerosis. Science 1996; 271: 515-518.
  • Zu JS, Deng H-X, Lo TP, et al. Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: Identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis. Neurogenet 1998; 1: 65-71.
  • Shaw CE, Enayat ZE, Chioza BA, et al. Mutations in all five exons of SOD-1 may cause ALS. Ann Neurol 1998; 43: 390-394.
  • Andersen PM, Nilsson P, Keranen ME, et al. Phenotypic heterogeneity in motor neuron disease patients with CuZnsuperoxide dismutase mutations in Scandinavia. Brain 1997; 120: 1723-1737.
  • Boukaftane Y, Khoris J, Moulard B, et al. Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci 1998; 25: 192-196.
  • Siddique T, Nijhawan D, Hentati A. Molecular genetic basis of familial ALS. Neurology 1996; 47(Suppl 2): S27-S35.
  • Siddique T, Deng H-X. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet 1996; 5: 1465-1470.
  • Cudkowicz ME, McKenna-Yasek D, Sapp PE, et al. Epidemiology of mutations in Superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997; 41: 210-221.
  • Sobue G, Doyu M, Nakano N, et al. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity. J Neurol Neurosurg Psychiatiy 1996; 60: 354-356.
  • Ikeuchi T, Takano H, Koide R, et al. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997; 42: 879-884.
  • Hayward C, Brock D, Minns R, Swingler R. Homozygosity for Asn86Ser mutation in CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis (letter). J Med Genet 1998; 35: 174.
  • A1-Chalabi A, Anderson PM, Chioza B, et al. Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet 1998; 7: 2045-2050.
  • DaI Canto MC, Gurney ME. A low expressor line of transgenic mice carrying a mutant human Cu,Zn Superoxide dismutase (SOD1) gene develops pathological changes that most closely resemble those in human amyotrophic lateral sclerosis. Acta Neuropathol 1997; 93: 537-550.
  • Aoki M, Ogasawara M, Matsubara Y, et al. Mild ALS in Japan associated with novel SOD mutation. Nature Genet 1993; 5: 323-324.
  • Orrell RW, Habgood JJ, Gardiner l, et al. Clinical and functional investigation of 10 missence mutations and a novel frameshift insertion mutation of the gene for copper-zinc Superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 1997; 48: 746-751.
  • Suthers G, Laing N, Wilton S, Dorosz S, Waddy H. 'Sporadic' motor neuron disease due to familial SODl mutation with low penetrance (letter). Lancet 1994; 344: 1773.
  • Anderson PM, Nilsson P, Keranen ML, et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997; 120: 1723-1737.
  • Jackson M, A1-Chalabi A, Enayat ZE, Chioza B, Leigh P, Morrison K. Copper/zine Superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol 1997; 42; 803-807.
  • Kawamata J, Shimohama S, Takano S, Harada K, Ueda K, Kimura J. Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young onset amyotrophic lateral sclerosis. Hum Mutat 1997; 9: 356-358.
  • Jones CT, Swinger RJ, Brock DJH. Identification of a novel exon 4 SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. Hum Mol Genet 1994; 3: 649-650.
  • Jones CT, Shaw PJ, Chari G, Brock DJ. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cell Probes 1994; 8: 329-330.
  • Hosler BA, Nicholson GA, Sapp PC, et al. Three novel mutations and two variants in the gene for Cu/Zn Superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromusc Disord 1996; 6:361-366.
  • Gumey ME, Cutting FB, Ping Z, et al. Benefit of Vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis. Ann Neurol 1996; 39: 147-157.
  • Barneoud P, Curet O. Beneficial effects of lysine acetylsalicylate, a soluble salt of aspirin, on motor performance in a transgenic model of amyotrophic lateral sclerosis. Exp Neurol 1999; 155: 243-251.
  • Hottinger AF, Fine EG, Gurney ME, Zurn AE, Aebischer P. The copper chelator d-penicillamine delays onset of disease and extends survival in a transgenic mouse model of familial amyotrophic lateral sclerosis. Eur J Neurosci 1997; 9: 1548-1551.
  • Trieu VN, Uckun FM. Genistein is neuroprotective in murine models of familial amyotrophic lateral sclerosis and stroke. Biochem Biophys Res Comm 1999; 258: 658-688.
  • Klivenyi P, Ferrante RJ, Matthews RT, et al. Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis. Nature Med 1999; 5: 347-350.
  • Matthews RT, Yang L, Browne S, Baik M, Beal MF. Coenzyme Q10 administration increases mitochondria! concentrations and exerts neuroprotective effects. Proc Natl Acad Sci USA 1998; 95: 8892-8897.
  • Nagano S, Ogawa Y, Yanagihara T, Sakoda S. Benefit of combined treatment with trientine and ascorbate in familial amyotrophic lateral sclerosis model mice. Neurosci Lett 1999; 265: 159-162.
  • Mazzini L, Mora G, Balzarini C, et al. The natural history and the effects of gabapentin in amyotrophic lateral sclerosis. J Neurol Sci 1998; 160(Suppl 1):S57-S63.
  • Riviere M, Meininger V, Zeisser P, Munsat T. An analysis of extended survival in patients with amyotrophic lateral sclerosis treated with riluzole. Arch Neurol 1998; 55: 526-528.
  • Vyth A, Timmer JG, Bossuyt PM, Louwerse ES, de Jong JM. Survival in patients with amyotrophic lateral sclerosis, treated with an array of antioxidants. J Neurol Sci 1996; 139(Suppl): 99-103.
  • Gumey ME. The use of transgenic mouse models of amyotrophic lateral sclerosis in preclinical drug stories. J Neurol Sci 1997; 152(Suppl 1);S67-S73.
  • Simpson SA, Harding AE. Predictive testing for Huntington's disease: after the gene. The United Kingdom Huntington's Disease Prediction Consortium. J Med Genet 1993; 30: 1036-1038.
  • De Wert G. Ethics of predictive DNA-testing for hereditaiy breast and ovarian cancer. Patient Educ Couns 1998; 35: 43-52.
  • Nakanishi T, Masahiko K, Miyazaki A, et al. Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometiy. J Neurosci Methods 1998; 81: 41-44.
  • Nakano R, Sato S, Inuzuka T, et al. A novel mutation in Cu/Zn Superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 1994; 200: 695-703.
  • Morita M, Aoki M, Abe K, et al. A novel two-base mutation in the Cu/Zn Superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. Neurosci Lett 1996; 205; 79-82.
  • Hirano M, Fujii J, Nagai Y, et al. A new variant Cu/Zn superoxide dismutase (Val7Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 1994; 204: 572-577.
  • Bereznai B, Winkler A, Borasio GD, Gasser T. A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. Neuromuscular Disord 1997; 7: 113-116.
  • Penco S, Schenone A, Bordo D, et al. A SOD1 gene mutation in a patient with slowly progressing familial ALS. Neurology 1999; 53: 404-406.
  • Deng H-X, Tainer JA, Mitsumoto H, et al. Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1113-1116.
  • Hung W-Y, Yang Y, Caliendo J, et al. Two novel SOD1 mutations in familial amyotrophic lateral sclerosis (abstract). The American Society of Human Genetics Meeting, 1998; Denver, The University of Chicago Press, Chicago.
  • Moulard B, Camu W, Brice A, et al. A previously undescribed mutation in the SOD1 gene in a French family with atypical ALS (abstract). Sixth International Symposium on ALS/MND, 1995; Dublin. The University of Chicago Press, Chicago.
  • Enayat ZE, Orrell RW, Claus A, et al. Two novel mutations in the gene for copper zinc Superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1239-1240.
  • Hung W-Y, Yang Y, Kaplan JP, et al. A novel SOD1 mutation in familial amyotrophic lateral sclerosis (abstract). The American Society of Human Genetics Meeting, 1997; Baltimore, MD. The University of Chicago Press, Chicago.
  • Morita M, Abe K, Takahashi M, et al. A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS. Eur J Neurol 1998; 5: 389-392.
  • Elshafey A, Lanyon WG, Connor JM. Identification of a new missence point mutation in exon 4 of the Cu/Zn Superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 363-364.
  • Kawamata J, Shimohama S, Kimura J, et al. Deletion and point mutations in Superoxide dismutase-1 gene in amyotrophic lateral sclerosis (abstract). Eleventh TMlN International Symposium 1995: Tokyo.
  • Yulug IG, Katsanis N, de Belleroche J, Collinge J, Fisher EM. An improved protocol for the analysis of SOD1 gene mutations and a new mutation in exon 4. Hum Mol Genet 1995; 4: 1101-1104, 1474.
  • Ikeda M, Abe K, Aoki M, et al. Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn Superoxide dismutase gene. Neurology 1995; 45: 2038-2042.
  • De Belleroche J, Orrell RW, Habgood J, Gardiner IM, Greenwood J. A survey of Cu/Zn Superoxide dismutase mutations in 70 UK families with familial amyotrophic lateral sclerosis: clinical correlation (abstract). HUGO's Human Genome Meeting. 1996; Heidelberg.
  • De Belleroche J, Orrell R, Markluind S, et al. Functional and structural correlates of 12 Superoxide dismutase-1 mutations in UK families with amyotrophic lateral sclerosis (abstract). Sixth International Symposium on ALS/MND, 1995; Dublin. The University of Chicago Press, Chicago.
  • Kostrzewa M, Burck-Lehmann U, Müller U. Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn Superoxide dismutase-1 gene. Hum Mol Genet 1994; 3: 2261-2262.
  • Watanabe M, Aoki M, Abe K, et al. A novel missence point mutation (S134N) of the Cu/Zn Superoxide dismutase gene in a patient with familial motor neuron disease. Hum Mutation 1997; 9: 69-71.
  • Pramatarova A, Figlewicz DA, Krizus A, et al. Identification of new mutations in the Cu/Zn Superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995; 56: 592-596.
  • Ikeda M, Abe K, Aoki M, et al. A novel point mutation in the Cu/Zn Superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 491-492.
  • Kostrzewa M, Damian MS, Muller U. Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. Hum Genet 1996; 98: 48-50.
  • Pramatarova A, Goto J, Nanba E, et al. A two basepair deletion in the SOD1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 2061-2062.
  • Sapp PC, Rosen DR, Hosler BA, et al. Identification of three novel mutations in the gene for Cu/Zn Superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromuscular Disord 1995; 5: 353-357.
  • Shaw PJ, Tomkins J, Slade JY, et al. CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND). Neuroreport 1997; 8: 3923-3927.

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.