Journal of the Neurological Sciences
Volume 198, Issue 1 , Pages 17-19 , 15 June 2002

Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis

Received 9 November 2001 ,Revised 21 February 2002 ,Accepted 25 February 2002.

References 

  1. Siddique T, Deng HS. Genetics of amyotrophic lateral sclerosis. Mol. Genet. 1986;5:1465–1470
  2. Rosen DR, Siddique T, Patterson D, et al.  Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62
  3. Kato S, Takikawa M, Nakashima K, et al.  New consensus research on neuropathological aspects of familial amyotrophic lateral sclerosis with superoxide dismutase 1(SOD-1) gene mutations: inclusions containing SOD-1 in neurons and astrocytes. ALS. 2000;1:163–184
  4. Jackson M, Al-Chalabi A, Zinat E, Chioza B, Leigh PN, Morrison K. Copper/zinc 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
  5. Yulug IG, Katsanis N, de Belleroche J, Collinge J, Fisher E. An improved protocol for the analysis of SOD-1 gene mutations, and a new mutation in exon 4. Hum. Mol. Genet. 1995;4:1101–1104
  6. Misra HP, Fridovich I. The role of superoxide anion in the autoxidation of epinephrine and a simple assay for superoxide dismutase. J. Biol. Chem. 1972;247:3170–3175
  7. Hosler BA, Nicolson GA, Sapp PC, et al.  Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromuscular Disord. 1996;6:361–366
  8. Rothstein JD, Bristol LA, Hosler B, Brown RH, Kuncl RW. Chronic inhibition of superoxide dismutase produces apoptotic death of spinal neuron. Proc. Natl. Acad. Sci. U. S. A. 1994;91:4155–4159
  9. Troy CM, Shelanski M. Down regulation of copper/zinc superoxide dismutase causes apoptotic death in PC12 neuronal cells. Proc. Natl. Acad. Sci. U. S. A. 1994;91:6384–6387
  10. 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
  11. Reaume AG, Elliott JL, Hoffman E, et al.  Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat. Genet. 1996;13:43–47
  12. Juneja 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 mutation in Cu/Zn superoxide dismutase. Neurology. 1997;48:55–57
  13. Cleveland DW, Laing N, Hurse PV, Brown RH. Toxic mutants in Charcot's sclerosis. Nature. 1995;378:32–34

PII: S0022-510X(02)00052-7

Journal of the Neurological Sciences
Volume 198, Issue 1 , Pages 17-19 , 15 June 2002

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