Home LiteratureArticle Details
PMID: 6233902 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S. Review

Huntington disease: genetics and epidemiology.

American journal of human genetics ·Vol. 36 ·No. 3 ·1984-05-00 ·Pages 506-26

Conneally PM

Abstract

Huntington disease (HD) is an autosomal dominant disorder in which the major gene expression occurs in the central nervous system. It is characterized by the appearance of progressive chorea and dementia, usually in adult life. One tragic aspect of the disorder, due to its late age of onset and, until recently, lack of a presymptomatic marker, is that transmission of the disease to offspring invariably occurs before symptoms develop in the parent. Although the onset of symptoms and the rate of progression may vary, the prognosis is one of relentless deterioration. The major pathological features of HD are a primary loss of cells in the caudate nucleus and putamen (striatum) but other regions of the basal ganglia, hypothalamus, and brain stem are also involved. Not only is there neuronal loss but there is also a decrease in the level of a number of neurotransmitters and associated enzymes, together with abnormalities in some receptor sites. Martin [1] described the disease as "genetically programmed cell death in the human central nervous system."

MeSH Terms
Age Factors Australia Canada Chromosome Mapping England Europe Far East Female Gene Frequency Genes, Dominant Genetic Markers Heterozygote Humans Huntington Disease/epidemiology,genetics Male Mutation Pedigree Prognosis Time Factors United States
Chemicals
Genetic Markers
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Conneally P M
References (58)
58 references, click to expand
  1. Caucasian genes in American Negroes.
    Science. 1969 Aug 22;165(3895):762-8 PMID: 4894336
  2. Huntington's chorea in Northamptonshire.
    Br J Psychiatry. 1970 Mar;116(532):241-53 PMID: 4244787
  3. Huntington's chorea in the West of Scotland.
    Br J Psychiatry. 1970 Mar;116(532):259-70 PMID: 4244789
  4. Parental ascent in the juvenile form of Huntington's chorea.
    Lancet. 1970 Oct 31;2(7679):937 PMID: 4097325
  5. Affected parent and age of onset in Huntington's chorea.
    J Med Genet. 1970 Mar;7(1):20-1 PMID: 4249305
  6. Mutation and cancer: statistical study of retinoblastoma.
    Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3 PMID: 5279523
  7. Huntington's chorea in Bedfordshire, England.
    Guys Hosp Rep. 1971;120(4):295-309 PMID: 4261437
  8. Fibroblast cultures in Huntington's disease.
    N Engl J Med. 1973 Apr 19;288(16):856-7 PMID: 4266468
  9. Stress in Huntington's disease (chorea). (Review of the literature and personal observations).
    Dis Nerv Syst. 1972 May;33(5):339-44 PMID: 4269260
  10. The relation of sex of affected parent to the age at onset of Huntington's disease.
    J Med Genet. 1973 Dec;10(4):333-6 PMID: 4272739
  11. Effect of climatic temperature on the age of onset of Huntington's chorea.
    J Neurol Neurosurg Psychiatry. 1974 Mar;37(3):297-301 PMID: 4275253
  12. The relation of the sex of choreic and rigid subjects to the age at onset of Huntington's disease.
    Clin Genet. 1974;5(3):248-53 PMID: 4275700
  13. Investigation on Huntington's disease in the Canadian Prairies. II. Fecundity and fitness.
    Clin Genet. 1975 Apr;7(4):349-53 PMID: 123838
  14. [Huntinton's chorea, a serious hereditary disease. Conditions of its disappearance].
    Rev Med Liege. 1975 Apr 1;30(7):228-32 PMID: 124459
  15. Fibroblasts in Huntington's disease.
    N Engl J Med. 1975 Dec 11;293(24):1225-7 PMID: 127123
  16. The social effect of Huntington's chorea on reproductive effectiveness.
    Ann Hum Genet. 1976 Jan;39(3):375-9 PMID: 132133
  17. Strain-dependent variations in number of midbrain dopaminergic neurones.
    Nature. 1976 Dec 16;264(5587):654-6 PMID: 12476
  18. The prevalence of Huntington's chorea in an area of East Anglia.
    J R Coll Gen Pract. 1977 Jan;27(166):41-5 PMID: 137972
  19. Anomalous cellular proliferation in vitro associated with Huntington's disease.
    Hum Genet. 1977 Apr 15;36(2):143-54 PMID: 140146
  20. Electron spin resonance study of membrane protein alterations in erythrocytes in Huntington's disease.
    Nature. 1977 Jun 2;267(5610):453-5 PMID: 195214
  21. Abnormalities in growth of skin fibroblasts of patients with Huntington's disease.
    Ann Neurol. 1977 May;1(5):426-30 PMID: 152598
  22. A linkage study of the loci for Huntington's disease and some common polymorphic markers.
    Ann Hum Genet. 1978 Oct;42(2):203-11 PMID: 153119
  23. Genetic linkage studies in Huntington disease.
    Cytogenet Cell Genet. 1978;22(1-6):640-5 PMID: 156628
  24. Huntington's chorea. The basis for long-term prevention.
    Lancet. 1979 Aug 18;2(8138):346-9 PMID: 89402
  25. Fluorescence spectroscopy on Huntington's fibroblasts.
    J Neurochem. 1979 Oct;33(4):905-11 PMID: 158636
  26. Relation of occupational stress to the age at onset of Huntington's disease.
    Acta Neurol Scand. 1979;60(5):272-6 PMID: 161686
  27. Chemical pathology of Huntington's disease.
    Annu Rev Pharmacol Toxicol. 1980;20:533-51 PMID: 6446256
  28. The relationships of aging changes in the basal ganglia to manifestations of Huntington's chorea.
    Ann Neurol. 1980 May;7(5):406-11 PMID: 6446874
  29. Huntington's disease in two New Britain families.
    J Med Genet. 1980 Jun;17(3):197-202 PMID: 6447211
  30. The prevalence of Huntington's chorea in South Africa.
    S Afr Med J. 1980 Aug 2;58(5):193-6 PMID: 6447364
  31. Social perspectives in Huntington's chorea.
    S Afr Med J. 1980 Aug 2;58(5):201-3 PMID: 6447366
  32. Fluorescence spectroscopic studies of Huntington fibroblast membranes.
    Am J Hum Genet. 1981 Mar;33(2):155-65 PMID: 6452057
  33. Huntington disease and Tourette syndrome. I. Electron spin resonance of bed ghosts.
    Am J Hum Genet. 1981 Mar;33(2):166-74 PMID: 6259936
  34. Huntington disease and Tourette syndrome. II. Uptake of glutamic acid and other amino acids by fibroblasts.
    Am J Hum Genet. 1981 Mar;33(2):175-86 PMID: 6452058
  35. Skin fibroblasts in Huntington disease.
    Am J Hum Genet. 1981 Mar;33(2):187-96 PMID: 6452059
  36. The ups and downs of Huntington disease research.
    Am J Hum Genet. 1981 Mar;33(2):314-7 PMID: 6452061
  37. Genetic linkage studies in Huntington's chorea.
    Ann Hum Genet. 1980 Jul;44(Pt 1):75-9 PMID: 6459755
  38. Genetic aspects of Huntington's chorea: results of a national survey.
    Am J Med Genet. 1982 Feb;11(2):135-41 PMID: 6461251
  39. Factors related to onset age of Huntington disease.
    Am J Hum Genet. 1982 May;34(3):481-8 PMID: 6211092
  40. Factors influencing age at onset and duration of survival in Huntington's chorea.
    Ann Hum Genet. 1981 Oct;45(Pt 4):387-96 PMID: 6211129
  41. Progression rate and age at onset are related in autosomal dominant neurologic diseases.
    Neurology. 1982 Aug;32(8):907-9 PMID: 6212773
  42. The mutation rate to Huntington's chorea.
    J Med Genet. 1982 Jun;19(3):161-7 PMID: 6213773
  43. Huntington's disease: genetically programmed cell death in the human central nervous system.
    Nature. 1982 Sep 16;299(5880):205-6 PMID: 6213865
  44. Maternal transmission in Huntington's disease.
    Lancet. 1983 Jan 29;1(8318):208-10 PMID: 6130245
  45. Age-of-onset heterogeneity in Huntington disease families.
    Am J Med Genet. 1983 Jan;14(1):49-59 PMID: 6219581
  46. New mutations in Huntington's chorea.
    J Med Genet. 1983 Feb;20(1):76-7 PMID: 6221101
  47. Dopamine D-1 and D-2 receptors in Huntington's disease.
    Eur J Pharmacol. 1983 Mar 25;88(2-3):223-9 PMID: 6221936
  48. Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis.
    Am J Hum Genet. 1983 Sep;35(5):827-37 PMID: 6577787
  49. Two models for a maternal factor in the inheritance of Huntington disease.
    Am J Hum Genet. 1983 Sep;35(5):845-60 PMID: 6225335
  50. Huntington's Chorea in the Netherlands. The problem of genetic heterogeneity.
    Ann Hum Genet. 1983 Jul;47(Pt 3):205-14 PMID: 6225372
  51. A polymorphic DNA marker genetically linked to Huntington's disease.
    Nature. 1983 Nov 17-23;306(5940):234-8 PMID: 6316146
  52. An educational approach to the social problem of Huntington's chorea.
    Proc Staff Meet Mayo Clin. 1955 Aug 10;30(16):349-57 PMID: 13245841
  53. Huntington's chorea in Michigan. I. Demography and genetics.
    Am J Hum Genet. 1958 Jun;10(2):201-25 PMID: 13533397
  54. [Age of onset in Huntington's chorea].
    Acta Genet Stat Med. 1959;9(1):18-32 PMID: 13649208
  55. Huntington's chorea in Michigan. 2. Selection and mutation.
    Am J Hum Genet. 1959 Jun;11(2 Part 1):107-36 PMID: 13661148
  56. [Length of illness and life expectancy in Huntington's chorea].
    Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1960;201:298-312 PMID: 13784351
  57. HUNTINGTON'S CHOREA IN VICTORIA AND TASMANIA.
    J Neurol Sci. 1964 Sep-Oct;1(5):405-20 PMID: 14221937
  58. Huntington's chorea.
    J Med Genet. 1966 Dec;3(4):298-314 PMID: 16178092
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1984-05-00
Pages
506-26
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684448
Subset
IM
Grants
NINDS NIH HHS · N01-NS-9-2320 · United States
External Links
PubMed source PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2