Advanced search
Publication Cover
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders Volume 1, 2000 - Issue 4
Journal homepage
61
Views
12
CrossRef citations to date
0
Altmetric
Research Article

Frameshift, nonsense and non amino acid altering mutations in SOD1 in familial ALS: report of a Japanese pedigree and literature review

Yasuhiro Watanabe Division of Neurology, Institute of Neurological Sciences, Tottori University, Yonago, Japan
,
Shinsuke Kato Division of Neuropathology, Institute of Neurological Sciences, Tottori University, Yonago, Japan
,
Yoshiki Adachi Division of Neurology, Institute of Neurological Sciences, Tottori University, Yonago, Japan
&
Kenji Nakashima Division of Neurology, Institute of Neurological Sciences, Tottori University, Yonago, Japan
Pages 251-258 | Published online: 10 Jul 2009

  • Takahashi K, Nakamura H, Okada E. Hereditary amyotrophic lateral sclerosis. Histochemical and electron microscopic study of hyaline inclusions in motor neurons. Arch Neurol 1972; 27:292-299.
  • Pramatarova A, Goto J, Nanba E, et al. A two base pair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 2061-2062.
  • Nakashima K, Watanabe Y, Kuno N, Nanba E, Takahashi K. Abnormality of Cu/Zn Superoxide dismutase (SODl) activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SODl gene. Neurology 1995; 45: 1019-1020.
  • Watanabe Y, Kono Y, Nanba E, et al. The absence of abnormal Cu/Zn Superoxide dismutase (SODl) in familial amyotrophic lateral sclerosis with two base pair deletion in the SODl gene. In: Nakano I, Hirano A, eds. Amyotrophic Eateral Sclerosis: Progress and perspectives in basic research and clinical application. Amsterdam: Elsevier, 1995: 281-284.
  • Watanabe Y, Kuno N, Kono Y, et al. Absence of the mutant SODl in familial amyotrophic lateral slerosis (FALS) with two base pair deletion in the SODl gene. Acta Neurol Scand 1997; 95: 167-172.
  • Watanabe Y, Kono Y, Nanba E, Ohama E, Nakashima K. Instability of expressed Cu/Zn Superoxide dismutase with 2 bp deletion found in familial amyotrophic lateral sclerosis. FEBS Eett 1997; 400: 108-112.
  • Yim MB, Kang JH, Yim HS, Kwak HS, Chock PB, Stadtman ER. A gain-of-function of an amyotrophic lateral sclerosis-associated Cu,Zn Superoxide dismutase mutant: An enhancement of free radical formation due to a decrease in Km for hydrogen peroxide. Proc Natl Acad Sci USA 1996; 93: 5709-5714.
  • Beckman JS, Carson M, Smith CD, Koppenol WH. ALS, SOD and peroxynitrite. Nature 1993; 364: 584.
  • Kato S, Shimoda M, Morita T, et al. Neuropathology of familial ALS with a mutation of the Superoxide dismutase 1 gene. In: Nakano 1, Hirano A, eds. Amyotrophic Lateral Sclerosis: Progress and perspectives in basic research and clinical application. Amsterdam: Elsevier, 1995: 117-122.
  • Kato S, Shimoda M, Watanabe Y, Nakashima K, Takahashi K, Ohama E. Familial amyotrophic lateral sclerosis with a two base pair deletion in Superoxide dismutase 1 gene: multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytes. J Neuropathol Exp Neurol 1996; 55: 1089-1101.
  • Kawamata J, Shimohama S, Hasegawa H, ImuraT, Kimura J, Ueda K. Deletion and point mutations in Superoxide dismutase-1 gene in amyotrophic lateral sclerosis. In: Nakano 1, Hirano A, eds. Amyotrophic Lateral Sclerosis: Progress and perspectives in basic research and clinical application. Amsterdam: Elsevier, 1995: 276-280.
  • Kadekawa J, Fujimura H, Ogawa Y, et al. A clinicopathological study of a patient with familial amyotrophic lateral sclerosis associated with a two base pair deletion in the copper/zinc Superoxide dismutase (SODl ) gene. J Neurol Sci 1997; 152: 226-229.
  • Andersen PM, Nilsson P, Keränen ML, et al. Phenotypic heterogeneity in motor neuron disease patients with CuZnsuperoxide dismutase mutations in Scandinavia. Brain 1997; 120: 1723-1737.
  • Orrell RW, Habgood JJ, Gardiner l, et al. Clinical and functional investigation of 10 missense 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.
  • Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE. 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.
  • Hosier 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. Neuromuscul Disord 1996; 6: 361-366.
  • Zu JS, Deng HX, Lo TP, et al. Exon 5 encoded domain is not required for the toxic function of mutant SODl but essential for the dismutase activity: identification and characterization of two new SODl mutations associated with familial amyotrophic lateral sclerosis. Neurogenetics 1997; 1: 65-71.
  • 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. Neuromuscul Disord 1995; 5: 353-357.
  • Boukaftane Y, Khoris J, Moulard B, et al. Identification of six novel SODl gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci 1998; 25: 192-196.
  • Shaw PJ, Tomkins J, Slade JY, et al. CNS tissue Cu/Zn superoxide dismutase (SODl) mutations in motor neurone disease (MND). Neuroreport 1997; 8: 3923-3927.
  • lnce PG, Tomkins J, Slade JY, Thatcher NM, Shaw PJ. Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn Superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol 1998; 57: 895-904.
  • Ogawa Y, Kosaka H, Nakanishi T, et al. Stability of mutant Superoxide dismutase-1 associated with familial amyotrophic lateral sclerosis determines the manner of copper release and induction of thioredoxin in erythrocytes. Biochem Biophys Res Commun 1997; 241: 251-257.
  • KoideT, lgarashi S, Kikugawa K, et al. Formation of granular cytoplasmic aggregates in COS7 cells expressing mutant Cu/Zn Superoxide dismutase associated with familial amyotrophic lateral sclerosis. Neurosci Lett 1998; 257: 29-32.
  • Ratovitski T, Corson LB, Strain J, et al. Variation in the biochemical/biophysical properties of mutant Superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. Hum MoI Genet 1999; 8: 1451-1460.
  • Borchelt DR, Lee MK, Skint HS, et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc Natl Acad Sci USA 1994; 91: 8292-8296.
  • Nakano R, Inuzuka T, Kikugawa K, et al. Instability of mutant Cu/Zn Superoxide dismutase (Ala4Thr) associated with familial amyotrophic lateral sclerosis. Neurosci Lett 1996; 211: 129-131.
  • Siddique T, Nijhawan D, Hentati A. Familial amyotrophic lateral sclerosis.) NeuralTransm 1997; 49(suppl): 219-233.
  • Radunovic A, Leigh PN. Cu/Zn Superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 1996; 61: 565-572.
  • Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn Superoxide dismutase. Nature Genet 1995; 10: 61-66.
  • Brown RH Jr. SODl aggregates in ALS: cause, correlate or consequence? Nat Med 1998; 4: 1362-1364.
  • Wiedeau-Pazos M, Goto JJ, Rabizadeh S, et al. Altered reactivity of Superoxide dismutase in familial amyotrophic lateral sclerosis. Science 1996; 271: 515-518.
  • Rabizadeh S, Gralla EB, Borchelt DR, et al. Mutations associated with amyotrophic lateral sclerosis convert Superoxide dismutase from an antiapoptotic gene: studies in yeast and neural cells. Proc Natl Acad Sci USA 1995; 92: 3024-3028.
  • Hottinger AF, Fine EG, Gurney ME, Zurn AD, 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.

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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.