Summary
The available information on the world distribution of Huntington's disease (HD) from population surveys and death rate analysis is summarised and discussed in the light of genetic studies. It is concluded that most European populations, both Northern and Southern, show a relatively high prevalence (4–8 per 100,000), and that the disorder may also be frequent in India and parts of central Asia. HD is notably rare in Finland and in Japan, but data for Eastern Asia and Africa are inadequate. The disorder may have been underestimated in the American black population. Populations derived from recent European imigration show frequencies and origins of HD comparable to those expected from their own origins and expansion; there is no evidence to suggest that the HD gene has spread disproportionally and its selective effect may be close to neutral. Multiple separate introductions of the gene have been the rule in large populations. Several major foci of HD exist as the result of rapid population expansion. It is likely that a number of separate mutations for HD will be shown to be responsible for the disease, but that the high frequency of HD in European populations will prove to be the result of one or a very small number of mutations, probably of great antiquity.
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References
Arena R, Nuti M, Ludice A (1979) Rilievi epidemiologici della corea di Huntington nella Toscanna nord-occidentale. Atti 5 Riun Limpe 123–133
Arostegui G (1890) De la corea cronica progressiva. Cronica Medica Chirurgica Habana 16:74
Bayulkem F, Turek I (1961) Huntington's chorea in Turkey. Psychiatr Q 35:358–360
Bell J (1934) Huntington's chorea. In: Fisher RA (ed) Treasury of human inheritance, vol 4: Brothers CRD (1949) The history and incidence of Huntington's chorea in Tasmania. Proceedings of the Royal Australian College of Physicians. Cambridge, Cambridge University Press, pp 48–50
Bickford JAR, Ellison RM (1953) High incidence of Huntington's chorea in the Duchy of Cornwall. J Ment Sci 99:291–294
Bolt JMW (1970) Huntington's chorea in the west of Scotland. Br J Psychiatry 116:259–270
Bruyn GW (1968) Huntington's chorea: historical, clinical and laboratory synopsis. In: Vinken PJ, Bruyn GW (eds) Handbook of neurology. North-Holland, vol 49. Amsterdam, pp 298–378
Cameron D, Venters GA (1967) Some problems in Huntington's chorea. Scott Med J 12:152–156
Caro AJ (1977) Huntington's chorea; a clinical problem in East Anglia. PhD thesis, University of East Anglia
Cassar P (1967) Huntington's chorea with special reference to its incidence in Malta. St Luke's Hosp Gazette, June 3–13
Cendrowski W (1964) Some remarks on the geography of Huntington's chorea. Neurology (Minneapolis) 14:839–843
Chhutani PN (1957) Huntington's chorea in India. J Indian Med Assoc 29:156–157
Clarke A (1990) Genetic imprinting in clinical genetics. In: Monk M. Surani A (eds) Genomic imprinting (Supplement to Development). Cambridge, pp 131–139
Conneally PM (1984) Huntington's disease: genetics and epidemiology. Am J Hum Genet 36:506–526
Conneally PM, Haines J, Tanzi R, et al (1989) No evidence of linkage heterogeneity between Huntington disease (HD) and G8 (D4S10). Genomics 5:304–308
Couto M (1891) Da corea de Huntington. Brasil-Medica 5:341–344
Davenport CB, Muncey EB (1916) Huntington's chorea in relation to heredity and eugenics. Eugenics Record Office Bull 17:195–222
Falstein EI, Stone H (1939) Huntington's chorea as a psychiatric and social problem in Illinois. Illinois Med J 75:164–165
Folstein SE, Chase GA, Wahl WE, McDonnell AM, Folstein MF (1987) Huntington's disease in Maryland: clinical aspects of racial variation. Am J Hum Genet 41:168–179
Frontali M, Malaspina P, Rossi C, et al (1990) Epidemiological and linkage studies on Huntington's disease in Italy. Hum Genet 85:167–170
Gale F, Bennett JH (1969) Huntington's chorea in a South Australian community of aboriginal descent. Med J Aust 2:482–484
Glendinning N (1975) A study in Huntington's chorea. MD thesis, University of London
Groppi C, Barontini F, Braco L, Sita D, Inzitari D, Amadulli L, Fratiglioni L (1986) Huntington's chorea: a prevalence study in the Florence area. Acta Psychiatr Scand 74:266–268
Gudmundsson KR (1969) Prevalence and occurrence of some rare neurological diseases in Iceland. Acta Neurol Scand 45:114–118
Gusella JF, Wexler NS, Conneally PN (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306:234–238
Haddock RDW (1973) Neurological disorders in Ghana. In: Spillane JD (ed) Tropical neurology. Oxford University Press, Oxford, pp 143–190
Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE (1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Lancet 339:1125–1127
Harper PS (1976) Genetic variation in Wales. J R Coll Physicians Lond 10:321–332
Harper PS (1991) Genetic aspects of Huntington's disease. In: Harper PS (ed) Huntington's disease. Saunders, London, pp 281–315
Harper PS, Walker DA, Tyler A, Newcombe RG, Davies K (1979) Huntington's chorea. The basis for long-term prevention. Lancet II:346–349
Harper PS, Harley HG, Reardon W, Shaw DJ (1992) Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet (in press)
Harries JR (1973) Neurological disorders in Kenya. In: Spillane JD (ed) Tropical neurology. Oxford University Press, Oxford, pp 207–212
Hayden MR (1979) Huntington's chorea in South Africa. PhD thesis, University of Cape Town
Hayden MR (1981) Huntington's chorea. Springer, Berlin Heidelberg New York
Hayden MR, Hayden MR, Hopkins HC, Macrae M, Beighton PH (1980a) The origin of Huntington's chorea in the Afrikaner population of South Africa. S Afr Med J 58:197–203
Hayden MR, MacGregor JM, Beighton PH (1980b) The prevalence of Huntington's chorea in South Africa. S Afr Med J 58:193–196
Heathfield KWG (1967) Huntington's chorea: investigation into the prevalence of disease in the area covered by the North East Metropolitan Board. Brain 90:203–232
Heathfield KWG, MacKenzie ICK (1971) Huntington's chorea in Bedfordshire. Guy's Hosp Rep 120:295–230
Hetherington HB, Wechsler Z (1942) Huntington's chorea in a naive Melanesian family of the British Solomon Islands. Med J Aust 1:599–600
Hogg JE, Massey EW, Schoenberg BS (1979) Mortality from Huntington's disease in the United States. Adv Neurol 23:27–33
Huntington G (1872) On chorea. Med Surg Rep 26:320–321
Husquinet H (1970) La choree de Huntington dans les 4 provinces Belges. In: Warot P (ed) CR 67E Congr Psychiat Neurol Langue Franc. Masson, Paris, pp 1079–1118
Hutton PW (1956) Neurological disease in Uganda. East Afr Med J 133:209–223
Ikonen E, Palo J, Ott J (1990) Huntington's disease in Finland: linkage disequilibrium of chromosomes 4RFLP haplotype and exclusion of a tight linkage between the disease and D4S43 locus. Am J Hum Genet 46:5–11
Joubert J, Botha MC (1988) Huntington's disease in South African blacks: a report of 8 cases. S Afr Med J 73:489–494
Kanazawa I (1983) Prevalence rate of Huntington's disease in Ibaraki prefecture. Annual report of research committee of CNS degenerative diseases, Ministry of Health and Welfare of Japan, pp 151–156
Kishimoto K, Nakamura M, Sotrokawa Y (1957) Population genetics study — Huntington's chorea in Japan. Annual report. Res Inst Environ Med 9:195–211
Kozlova SI, Dadali EL, Prytkov AN, Bolshakova LP, Sibiryakova LG, et al (1986) Population, demographic and clinical-genetic studies of the Huntington disease in an Azerbaijan local region. Genetica 22:2534–2539
Kurland LT (1958) Descriptive epidemiology of selected neurologic and myopathic disorders with particular reference to a survey in Rochester, Minnesota. J Chronic Disord 8:378–418
Kurtzke JF (1979) Huntington's disease: mortality and morbidity data from outside the United States. Adv Neurol 23:13–25
Lanska DJ, Levine L, Lanska MJ, Schoenberg BS (1988) Huntington's disease mortality in the United States. Neurology 38:769–772
Leger JM, Ronauil R, Vallat JN (1974) Huntington's chorea in Limousin: statistical and clinical study. Rev Med Limoges 5:147–153
Lyon RL (1962) Huntington's chorea in the Moray firth area. Br Med J I:1301–1306
MacMillan JC, Harper PS (1991) Single gene neurological disorders in South Walkes; an apidemiological study. Ann Neurol 30:411–414
Mainini P, Lucci B, Guidetti D, Casoli C (1982) Prevalenzi della mallattis di Huntington nelle Provincie di Reggio Emilia e Parma
Marx RN (1973) Huntington's chorea in Minnesota. Adv Neurol 1:237–243
Mastromauro CA, Meissen GJ, Cupples LA, Berkman B, Myers RH (1989) Estimation of fertility and fitness in Huntington's disease in New England. Am J Med Genet 33:248–254
Mattsson B (1974) Huntington's chorea in Sweden. I. Prevalence and genetic data. Acta Psychiatr Scand [Suppl] 255:211–255
Merrit AD, Conneally PM, Rahman NF, Drew AL (1969) Juvenile Huntington's chorea. In: Barbeau A, Brunette JR (eds) Progress in neurogenetics. Excerpta Medica, Amsterdam, pp 645–650
Narabayashi H (1973) Huntington's chorea in Japan: review of the literature. Adv Neurol 1:253–259
Office of Health Economics (1980) Huntington's chorea. Publication 67, pp 1–35
Oliver JE (1970) Huntington's chorea in Northamptonshire. Br Med J II:650
Osuntoken BO (1973) Neurological disorders in Nigeria. In: Spillane JD (ed) Tropical neurology. Oxford University Press, Oxford, pp 161–190
Palo J, Somer H, Ikonen EM, Karila L, Perltonen L (1987) Low prevalence of Huntington's disease in Finland. Lancet II:805–806
Panse F (1942) Die Erbchorea: eine klinische-genetische Studie. Thieme, Leipzig
Parker N (1958) Observation on Huntington's chorea based on a Queensland survey. Med J Aust 45:351–357
Pearson JS, Petersen MC, Lazarte JA, Blodgett HE, Kley IB (1955) An educational approach to the social problem of Huntington's chorea. Proc Mayo Clin 30:349–357
Penney JB, Young AB, Shoulson I (1990) Huntington's disease in Venezuela: 7 years of follow-up on symptomatic and asymptomatic individuals. Mov Disord 5:93–99
Petit H (1970) La maladie de Huntington. In: Warot P (ed) CR 67E Congr Psychiat Neurol Langue Franc. Masson, Paris, pp 901–1058
Pleydell MJ (1954) Huntington's chorea in Northamptonshire. Br Med J II:1121–1128
Pleydell MJ (1955) Huntington's chorea in Northamptonshire. Br Med J II:889
Pridmore SA (1990a) Age of onset of Huntington's disease in Tasmania. Med J Aust 153:133–134
Pridmore SA (1990b) The prevalence of Huntington's disease in Tasmania. Med J Aust 153:133–134
Pritchard C, Cox DR, Myers RM (1991) The end in sight for Huntington's disease? Am J Hum Genet 49:1–6
Przuntek H, Steigerwald A (1987) Epidemiologische Untersuchung zur Huntington'schen Erkrankung im Einzugsgebiet der Würzburger Neurologischen Universitätsklinik unter besonderer Berücksichtigung des unterfränkischen Raumes. Nervenarzt 58:424–427
Punnett RC (1908) Mendelian inheritance in man. Proc R Soc Med l:135–168
Quarrell OWJ, Tyler A, Jones MP, Nordin M, Harper PS (1988) Population studies of Huntington's disease in Wales. Clin Genet 33:189–195
Reed TE, Neel JV (1959) Huntington's chorea in Michigan. II. Selection and mutation. Am J Hum Genet 11:107–136
Reed TW, Chandler JH, Hughes EM, Davidson RT (1958) Huntington's chorea in Michigan. I. Demography and genetics. Am J Hum Genet 10:201–225
Reid JJ (1960) Huntington's chorea in Northamptonshire. Br Med J II:650
Ridley RM, Frith CD, Farrer LA, Conneally PM (1991) Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting. J Med Genet 28:224–231
Roccatagliata G, Albano C (1976) Sotria naturale della corea di Huntington. Riv Neurol 46:297–332
Saugstad L, Odegard O (1986) Huntington's chorea in Norway. Psychol Med 16:39–48
Schoenberg BS (1979) Epidemiologic approach to Huntington's disease. Adv Neurol 23:1–11
Scrimgeour EM (1980) Huntington's disease in two New Britain families. J Med Genet 17:197–202
Scrimgeour EM (1982) Huntington's chorea in Papua. Papua New Guinea Med J 25:12–15
Scrimgeour EM (1983) Possible introduction of Huntington's chorea into Pacific Islands by New England Whalemen. Am J Med Genet 15:607–613
Sepcic J, Antonelli L, Sepcic-Grahovas D, Materljan E (1989) Epidemiology of Huntington's disease in Rijeka district Yugoslavia. Neuroepidemiology 8:105–108
Shaw DJ, Youngman S (1991) Molecular genetic approaches to Huntington's disease. In: Harper PS (ed) Huntington's disease. Saunders, London, pp 317–336
Shiwach RS, Lindenbaum RH (1990) Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent. Br J Psychiatry 157:598–599
Shokeir MHK (1975) Investigations on Huntington's disease in the Canadian praries. I. Prevalence. Clin Genet 7:345–348
Simpson A, Johnston AW (1989) The prevalence and patterns of care of Huntington's chorea in Grampian. Br J Psychiatry 155:799–804
Singh A, Singh S, Jolly SS (1959) Huntington's chorea: a report of 4 new pedigrees from Punjab. Neurology (Bombay) 7:7–8
Sjögren T (1936) Vererbungsmedizinische Untersuchungen über Huntingtons Chorea in einer schwedischen Bauernpopulation. Vererbkonstit-Lehre 19:131–165
Snell RG, Lazarou LP, Youngman S, et al (1989) Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. J Med Genet 26:673–675
Stevens DL (1976) Huntington's chorea: a demographic, genetic and clinical study. MD thesis, University of London
Stine OC, Smith KD (1990) The estimation of selection coefficients in Afrikaners: Huntington's disease, porphyria variegata, and lipoid proteinosis. Am J Hum Genet 11:107–136
Theilman J, Kanani S, Shiang R, et al (1989) Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet 26:676–681
Walker DA, Harper PS, Wells CEC, Tyler A, Davies K, Newcombe RG (1981) Huntington's chorea in South Wales: a genetic and epidemiological study. Clin Genet 19:213–221
Walker DA, Harper PS, Newcombe RG, Davies K (1983) Huntington's chorea in South Wales: mutation, fertility and genetic fitness. J Med Genet 20:12–17
Wallace DC, Parker N (1973) Huntington's chorea in Queensland: the most recent story. Adv Neurol 1:223–236
Wendt CG, Drohm D (1972) Die Huntingtonsche Chorea. Eine populations-genetische Studie. Thieme, Stuttgart
Went LN, Vegter-van der Vlis M, Bruyn GW, Volkers WS (1983) Huntington's chorea in the Netherlands: the problem of genetic heterogeneity. Ann Hum Genet 47:205–214
Wexler NS, Young AB, Tanzi RE (1987) Homozygotes for Huntington's disease. Nature 326:194–197
Wright HM, Still CN, Ramson RK (1981) Huntington's disease in black kindreds in South Carolina. Arch Neurol 38:412–414
Zölliker A (1949) Die Chorea Huntington in der Schweiz. Arch Neurol Psychiatr 64:448–459
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Harper, P.S. The epidemiology of Huntington's disease. Hum Genet 89, 365–376 (1992). https://doi.org/10.1007/BF00194305
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DOI: https://doi.org/10.1007/BF00194305