Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1982 Jun;19(3):161–167. doi: 10.1136/jmg.19.3.161

The mutation rate to Huntington's chorea

Michael Shaw *,‡, Adrian Caro †
PMCID: PMC1048861  PMID: 6213773

Abstract

The problems of estimating the mutation rate to Huntington's chorea, or the proportion of new mutants among all sufferers, are discussed. The available survey data are reviewed. The prevalence of sporadic phenotypes, which include new mutations, is probably less than 2·5%. New mutants probably make up around 0·1% or less of all sufferers.

Full text

PDF
166

Selected References

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

  1. Bolt J. M. Huntington's chorea in the West of Scotland. Br J Psychiatry. 1970 Mar;116(532):259–270. doi: 10.1192/bjp.116.532.259. [DOI] [PubMed] [Google Scholar]
  2. Caro A. J. The prevalence of Huntington's chorea in an area of East Anglia. J R Coll Gen Pract. 1977 Jan;27(166):41–45. [PMC free article] [PubMed] [Google Scholar]
  3. Charlesworth B., Charlesworth D. The measurement of fitness and mutation rate in human populations. Ann Hum Genet. 1973 Oct;37(2):175–187. doi: 10.1111/j.1469-1809.1973.tb01825.x. [DOI] [PubMed] [Google Scholar]
  4. Haugerud S. Chronisch progressive Chorea bei zwei Schwestern ohne nachweisbare Heredität. Schweiz Med Wochenschr. 1968 Dec 21;98(51):2016–2020. [PubMed] [Google Scholar]
  5. Hayden M. R., MacGregor J. M., Beighton P. H. The prevalence of Huntington's chorea in South Africa. S Afr Med J. 1980 Aug 2;58(5):193–196. [PubMed] [Google Scholar]
  6. LYON R. L. Drug treatment of Huntington's chorea. A trial with thiopropazate. Br Med J. 1962 May 12;1(5288):1308–1310. doi: 10.1136/bmj.1.5288.1308. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Mattsson B. Huntington's chorea in Sweden. Acta Psychiatr Scand Suppl. 1974;255:211–220. doi: 10.1111/j.1600-0447.1974.tb08909.x. [DOI] [PubMed] [Google Scholar]
  8. Oliver J. E. Huntington's chorea in Northamptonshire. Br J Psychiatry. 1970 Mar;116(532):241–253. doi: 10.1192/bjp.116.532.241. [DOI] [PubMed] [Google Scholar]
  9. PEARSON J. S., PETERSEN M. C., LAZARTE J. A., BLODGETT H. E., KLEY I. B. An educational approach to the social problem of Huntington's chorea. Proc Staff Meet Mayo Clin. 1955 Aug 10;30(16):349–357. [PubMed] [Google Scholar]
  10. REED T. E., NEEL J. V. Huntington's chorea in Michigan. 2. Selection and mutation. Am J Hum Genet. 1959 Jun;11(2 Pt 1):107–136. [PMC free article] [PubMed] [Google Scholar]
  11. Shokeir M. H. Investigations on Huntington's disease in the Canadian Prairies. I. Prevalence. Clin Genet. 1975 Apr;7(4):345–348. doi: 10.1111/j.1399-0004.1975.tb00340.x. [DOI] [PubMed] [Google Scholar]
  12. Stevens D., Parsonage M. Mutation in Huntington's chorea. J Neurol Neurosurg Psychiatry. 1969 Apr;32(2):140–143. doi: 10.1136/jnnp.32.2.140. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Stevenson A. C., Kerr C. B. On the distribution of frequencies of mutation to genes determining harmful traits in man. Mutat Res. 1967 May-Jun;4(3):339–352. doi: 10.1016/0027-5107(67)90029-2. [DOI] [PubMed] [Google Scholar]
  14. Vogel F., Rathenberg R. Spontaneous mutation in man. Adv Hum Genet. 1975;5:223–318. doi: 10.1007/978-1-4615-9068-2_4. [DOI] [PubMed] [Google Scholar]
  15. Wallace D. C. Huntington's chorea in Queensland. A not uncommon disease. Med J Aust. 1972 Feb 12;1(7):299–307. [PubMed] [Google Scholar]
  16. Wallace D. C. The social effect of Huntington's chorea on reproductive effectiveness. Ann Hum Genet. 1976 Jan;39(3):375–379. doi: 10.1111/j.1469-1809.1976.tb00142.x. [DOI] [PubMed] [Google Scholar]
  17. Yokoyama S., Templeton A. The effect of social selection on the population dynamics of Huntington's disease. Ann Hum Genet. 1980 May;43(4):413–417. doi: 10.1111/j.1469-1809.1980.tb01574.x. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES