Background: Reviews of the epidemiology of Huntington's disease (HD) suggest that its worldwide prevalence varies widely. This review was undertaken to confirm these observations, to assess the extent to which differences in case-ascertainment and/or diagnosis might be responsible, and to investigate whether the prevalence pattern has changed over the past 50 years. Methods: Eighty two relevant studies were identified from Medline and Embase, previous reviews, scrutiny of references from included and excluded studies and enquiry among those interested in the field. Results: The lowest rates were among the Asians and the highest among the Caucasians. The differences are not fully explained by varying approaches to case-ascertainment or diagnosis. There was evidence of an increasing prevalence of between 15 and 20% per decade in studies from Australia, North America and Western Europe. Conclusions: The prevalence of HD varies more than tenfold between different geographical regions. This variation can in part be attributed to differences in case-ascertainment and/or diagnostic criteria, but there is consistent evidence of a lower incidence in Asian populations. There is also evidence that in Australia, North America and in Western Europe (including the United Kingdom), prevalence has increased over the past 50 plus years.

Keywords:
Huntington’s disease, Systematic review, Prevalence, Epidemiology
1.
Novak MJ, Tabrizi SJ: Huntington's disease. BMJ 2010;341:34-40.
2.
Wexler NS: Huntington's disease: advocacy driving science. Annu Rev Med 2012;63:1-22.
3.
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 1993;72:971-983.
4.
Quarrell O, O'Donovan KL, Bandmann O, Strong M: The prevalence of juvenile Huntington's disease: a review of the literature and meta-analysis. PLoS Curr 2012;4:e4f8606b742ef3.
5.
Lekoubou A, Echouffo-Tcheugui JB, Kengne AP: Epidemiology of neurodegenerative diseases in sub-Saharan Africa: a systematic review. BMC Public Health 2014;14:653.
6.
Hoppitt T, Pall H, Calvert M, Gill P, Yao G, Ramsay J, James G, Conduit J, Sackley C: A systematic review of the incidence and prevalence of long-term neurological conditions in the UK. Neuroepidemiology 2011;36:19-28.
7.
Pringsheim T, Wiltshire K, Day L, Dykeman J, Steeves T, Jette N: The incidence and prevalence of Huntington's disease: a systematic review and meta-analysis. Mov Disord 2012;27:1083-1091.
8.
Evans SJ, Douglas I, Rawlins MD, Wexler NS, Tabrizi SJ, Smeeth L: Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records. J Neurol Neurosurg Psychiatry 2013;84:1156-1160.
9.
Conneally PM: Huntington disease: genetics and epidemiology. Am J Hum Genet 1984;36:506-526.
10.
Harper PS: The epidemiology of Huntington's disease. Hum Genet 1992;89:365-376.
11.
Harper PS: The epidemiology of Huntington's disease; in Bates G, Harper PS, Jones L (eds): Huntington's Disease, ed 3 Oxford, Oxford University Press, 2002.
12.
Al-Jader LN, Harper PS, Krawczak M, Palmer SR: The frequency of inherited disorders database: prevalence of Huntington disease. Community Genet 2001;4:148-157.
13.
Centre for Molecular Medicine and Therapeutics. Published reports of the worldwide prevalence of Huntington's disease. University of British Columbia, 2011. www.cmmt.ubc.ca/research/diseases/huntingtons/HD_Prevalence.
14.
Kay C, Fisher E, Hayden MR: Epidemiology; in Bates GP, Tabrizi SJ, Jones L (eds): Huntington's Disease, ed 4. Oxford, Oxford University Press, 2014.
15.
Higgins J, Thompson SG, Deeks JJ, Altman DGL: Measuring inconsistency in meta-analysis. BMJ 2003;327:557-560.
16.
Moher D, Liberati A, Tetzlaff J, Altman DG; PRISMA Group: Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med 2009;6:e1000097.
17.
Panse F, Die erbchorea: eine klinische-genetische studie Leipzig, Thieme, 1942.
18.
Forsbach R: Friedrich Panse - etabliert in allen Systemen: Psychiater in der Weimarer Republik, im ‘Dritten Reich' und in der Bundesrepublik. Der Nervenarzt 2012;83:329-336.
19.
Hayden MR, MacGregor JM, Beighton PH: The prevalence of Huntington's chorea in South Africa. S Afr Med J 1980;58:193-196.
20.
Scrimgeour EM, Pfumojena JW: Huntington disease in black Zimbabwean families living near the Mozambique border. Am J Med Genet 1992;44:762-766.
21.
Paradisi I, Hernández A, Arias S: Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation. J Hum Genet 2008;53:127-135.
22.
Fisher ER, Hayden MR: Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk. Mov Disord 2014;29:105-114.
23.
Folstein SE, Chase GA, Wahl WE, McDonnell AM, Folstein MF: Huntington disease in Maryland: clinical aspects of racial variation. Am J Hum Genet 1987;41:168-179.
24.
Kanazawa I: Prevalence and Rate of Huntington's Disease in Ibaraki Prefecture. Annual Report of the Research Committee of CNS Degenerative Diseases. Ministry of Health and Welfare of Japan, 1983, pp 151-156.
25.
Adachi Y, Nakashima K: [Population genetic study of Huntington's disease - prevalence and founder's effect in the San-in area, western Japan]. Nihon Rinsho 1999;57:900-904.
26.
Shiwach RS, Lindenbaum RH: Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent. Br J Psychiatry 1990;157:598-599.
27.
Douglas I, Evans S, Rawlins MD, Smeeth L, Tabrizi SJ, Wexler NS: Juvenile Huntington's disease: a population-based study using the general practice research database. BMJ Open 2013;3:e002085.
28.
Palo J, Somer H, Ikonen E, Karila L, Peltonen L: Low prevalence of Huntington's disease in Finland. Lancet 1987;2:805-806.
29.
Squitieri F, Griguoli A, Capelli G, Porcellini A, D'Alessio B: Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy. Clin Genet 2015, Epub ahead of print.
30.
Avila-Giron R: Medical and social aspects of Huntington's chorea in the state of Zulia, Venezuela. Adv Neurol 1973;1:261-266.
31.
Hardt P: Persons with Huntington's disease jailed in Juan de Costa. Huntington's Disease Advocacy Centre. http://www.ruledomain.com/hdac/features/article.php?p_articleNumber=641.
32.
Alencar MA, Lopez AM, Figueiredo E, Porciúncula CG, Monlleó I: Prevalence of Huntington's disease in Feira Grande, a small city in northeastern Brazil. J Neurol Neurosurg Psychiatry 2010;81:A22.
33.
Kozlova SI, Dadali EL, Prytkov AN, Bol'shakova LP, Sibiriakova LG: Populiatsionno-demograficheskaia i kliniko-geneticheskaia kharakteristika khorei Gentingtona v odnom iz raionov Azerbaijana. Genetika 1986;22:2534-2539.
34.
Lyon RL: Huntington's chorea in the Moray Firth area. Br Med J 1962;1:1301-1306.
35.
Sjogren T: Vererbungsmedizinische Untersuchungen uber Hunington's Chore in einer schwedischen Bauernpopulation. Zeitscr. F Menschl Vererbungs U Konstitutionslehre 1936;32:10-165.
36.
Warby SC, Visscher H, Collins JA, Doty CN, Carter C, Butland SL, Hayden AR, Kanazawa I, Ross CJ, Hayden MR: HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet 2011;19:561-566.
37.
Xu M, Wu ZY: Huntington disease in Asia. Chin Med J (Engl) 2015;128:1815-1819.
38.
Sipila JO, Hietala M, Siitonen A, Päivärinta M, Majamaa K: Epidemiology of Huntington's disease in Finland. Parkinsonism Relat Disord 2015;21:46-49.
39.
Almqvist EW, Elterman DS, MacLeod PM, Hayden MR: High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet 2001;60:198-205.
40.
Ramos-Arroyo MA, Moreno S, Valiente A: Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing. J Neurol Neurosurg Psychiatry 2005;76:337-342.
41.
Koutsis G, Karadima G, Kladi A, Panas M: Late-onset Huntington's disease: diagnostic and prognostic considerations. Parkinsonism Relat Disord 2014;20:726-730.
42.
Cornejo-Olivas MR, Inca-Martinez MA, Espinoza-Huertas K, Veliz-Otani D, Velit-Salazar MR, Marca V, Ortega O, Cornejo-Herrera IF, Lindo-Samanamud S, Mora-Alferez P, Mazzetti P: Clinical and molecular features of late onset Huntington disease in a Peruvian cohort. J Huntingtons Dis 2015;4:99-105.
43.
Wexler AR: The Woman Who Walked into the Sea: Huntington's and the Making of a Genetic Disease. New Haven, Yale University Press, 2008.
44.
Wexler NS: The incidence of Huntington's disease: a UK-based population study and a systematic review. BMJ Open, in press.
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2016
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