Skip to main content
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1995 Jul;59(1):90–91. doi: 10.1136/jnnp.59.1.90

Sequence of the superoxide dismutase 1 (SOD 1) gene in familial Parkinson's disease.

O Bandmann 1, M B Davis 1, C D Marsden 1, A E Harding 1
PMCID: PMC1073609  PMID: 7608718

Abstract

Mutations in the superoxide dismutase 1 (SOD1) gene have been detected in affected members of some families with familial amyotrophic lateral sclerosis. To evaluate the possibility of a shared genetic defect in amyotrophic lateral sclerosis and Parkinson's disease, the SOD1 gene was sequenced in index patients with familial Parkinson's disease from 23 families. No changes were detected.

Full text

PDF
90

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Armstrong M., Daly A. K., Cholerton S., Bateman D. N., Idle J. R. Mutant debrisoquine hydroxylation genes in Parkinson's disease. Lancet. 1992 Apr 25;339(8800):1017–1018. doi: 10.1016/0140-6736(92)90537-d. [DOI] [PubMed] [Google Scholar]
  2. Borchelt D. R., Lee M. K., Slunt H. S., Guarnieri M., Xu Z. S., Wong P. C., Brown R. H., Jr, Price D. L., Sisodia S. S., Cleveland D. W. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc Natl Acad Sci U S A. 1994 Aug 16;91(17):8292–8296. doi: 10.1073/pnas.91.17.8292. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Burrow J. N., Blumbergs P. C. Substantia nigra degeneration in motor neurone disease: a quantitative study. Aust N Z J Med. 1992 Oct;22(5):469–472. [PubMed] [Google Scholar]
  4. Eisen A., Calne D. Amyotrophic lateral sclerosis, Parkinson's disease and Alzheimer's disease: phylogenetic disorders of the human neocortex sharing many characteristics. Can J Neurol Sci. 1992 Feb;19(1 Suppl):117–123. [PubMed] [Google Scholar]
  5. Gasser T., Wszolek Z. K., Trofatter J., Ozelius L., Uitti R. J., Lee C. S., Gusella J., Pfeiffer R. F., Calne D. B., Breakefield X. O. Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol. 1994 Sep;36(3):387–396. doi: 10.1002/ana.410360310. [DOI] [PubMed] [Google Scholar]
  6. Gurney M. E., Pu H., Chiu A. Y., Dal Canto M. C., Polchow C. Y., Alexander D. D., Caliendo J., Hentati A., Kwon Y. W., Deng H. X. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science. 1994 Jun 17;264(5166):1772–1775. doi: 10.1126/science.8209258. [DOI] [PubMed] [Google Scholar]
  7. Jenner P. Oxidative damage in neurodegenerative disease. Lancet. 1994 Sep 17;344(8925):796–798. doi: 10.1016/s0140-6736(94)92347-7. [DOI] [PubMed] [Google Scholar]
  8. Jones C. T., Brock D. J., Chancellor A. M., Warlow C. P., Swingler R. J. Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis. Lancet. 1993 Oct 23;342(8878):1050–1051. doi: 10.1016/0140-6736(93)92905-9. [DOI] [PubMed] [Google Scholar]
  9. Majoor-Krakauer D., Ottman R., Johnson W. G., Rowland L. P. Familial aggregation of amyotrophic lateral sclerosis, dementia, and Parkinson's disease: evidence of shared genetic susceptibility. Neurology. 1994 Oct;44(10):1872–1877. doi: 10.1212/wnl.44.10.1872. [DOI] [PubMed] [Google Scholar]
  10. Marttila R. J., Lorentz H., Rinne U. K. Oxygen toxicity protecting enzymes in Parkinson's disease. Increase of superoxide dismutase-like activity in the substantia nigra and basal nucleus. J Neurol Sci. 1988 Sep;86(2-3):321–331. doi: 10.1016/0022-510x(88)90108-6. [DOI] [PubMed] [Google Scholar]
  11. Payami H., Larsen K., Bernard S., Nutt J. Increased risk of Parkinson's disease in parents and siblings of patients. Ann Neurol. 1994 Oct;36(4):659–661. doi: 10.1002/ana.410360417. [DOI] [PubMed] [Google Scholar]
  12. Planté-Bordeneuve V., Davis M. B., Maraganore D. M., Marsden C. D., Harding A. E. Debrisoquine hydroxylase gene polymorphism in familial Parkinson's disease. J Neurol Neurosurg Psychiatry. 1994 Aug;57(8):911–913. doi: 10.1136/jnnp.57.8.911. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Pramatarova A., Figlewicz D. A., Krizus A., Han F. Y., Ceballos-Picot I., Nicole A., Dib M., Meininger V., Brown R. H., Rouleau G. A. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet. 1995 Mar;56(3):592–596. [PMC free article] [PubMed] [Google Scholar]
  14. Przedborski S., Kostic V., Jackson-Lewis V., Naini A. B., Simonetti S., Fahn S., Carlson E., Epstein C. J., Cadet J. L. Transgenic mice with increased Cu/Zn-superoxide dismutase activity are resistant to N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced neurotoxicity. J Neurosci. 1992 May;12(5):1658–1667. doi: 10.1523/JNEUROSCI.12-05-01658.1992. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Rosen D. R., Siddique T., Patterson D., Figlewicz D. A., Sapp P., Hentati A., Donaldson D., Goto J., O'Regan J. P., Deng H. X. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993 Mar 4;362(6415):59–62. doi: 10.1038/362059a0. [DOI] [PubMed] [Google Scholar]
  16. Saggu H., Cooksey J., Dexter D., Wells F. R., Lees A., Jenner P., Marsden C. D. A selective increase in particulate superoxide dismutase activity in parkinsonian substantia nigra. J Neurochem. 1989 Sep;53(3):692–697. doi: 10.1111/j.1471-4159.1989.tb11759.x. [DOI] [PubMed] [Google Scholar]
  17. Takahashi H., Snow B. J., Bhatt M. H., Peppard R., Eisen A., Calne D. B. Evidence for a dopaminergic deficit in sporadic amyotrophic lateral sclerosis on positron emission scanning. Lancet. 1993 Oct 23;342(8878):1016–1018. doi: 10.1016/0140-6736(93)92878-w. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES