The prevalence of juvenile Huntington's disease: A review of the literature and meta-analysis

PLoS Currents

Volumn , Issue , 2012, Pages

  Quarrell, Oliver ^a   O'Donovan, Kirsty L ^a   Bandmann, Oliver ^c   Strong, Mark ^b  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c NONE

Author keywords

Epidemiology; Juvenile Huntington's disease; Prevalence

Indexed keywords

HUMAN; HUNTINGTON CHOREA; JUVENILE HUNTINGTON DISEASE; PREVALENCE; REVIEW; SOCIAL STATUS; DEVELOPED COUNTRY; EUROPE; INCIDENCE; JUVENILE HUNTINGTON CHOREA; META ANALYSIS;

EID: 84867498954     PISSN: None     EISSN: 21573999     Source Type: Journal    
DOI: 10.1371/4f8606b742ef3     Document Type: Review

References (80)

1. Orth, Michael; Schwenke, Carsten. Age-at-onset in Huntington disease [Internet]. Version 10. PLoS Currents: Huntington Disease. 2011 Jul 1 [revised 2011 Jul 29]. Available from: http://knol.google.com/k/michael-orth/age-at-onset-in-huntington-disease /3dua5u7tnja1b/3.
2. van Dijk JG, van der Velde EA, Roos RAC, Bruyn GW. Juvenile Huntington's disease. Hum Genet 1986;73:235-39.
3. Barker RA, Squitieri F. The clinical phenotype of juvenile Huntington's disease. In: Quarrell OWJ, Brewer HM, Squitieri F, Barker RA, Nance MA, Landwehrmeyer BG, eds. Juvenile Huntington's Disease and Other Trinucleotide Repeat Disorders. New York: Oxford University Press; 2009.
4. Siesling S, Vegter-van der Vlis M, Roos RAC. Juvenile Huntington disease in the Netherlands. Paed Neurol 1997;17:37-43.
5. Squitieri F, Frati L, Ciarmiello A, Lastoria S, Quarrell O. Juvenile Huntington's disease: Does a dosage-effect pathogenic mechanism differ from the classical adult disease? Mech Ageing Dev 2006;127:208-212.
6. Ribai P, Nguyen K, Hahn-Barma V, et al. Psychiatric and cognitive difficulties as indicators of juvenile Huntington disease onset in 29 patients. Arch Neurol 2007;64:813-19.
7. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
8. ACMG/ASHG. ACMG/ASHG Statement. Laboratory guidelines for Huntington's disease genetic testing. Am J Hum Genet 1998;62:1243-7
9. Quarrell OWJ, Nance MA. The diagnostic challenge. In: Quarrell OWJ, Brewer HM, Squitieri F, Barker RA, Nance MA, Landwehrmeyer BG, eds. Juvenile Huntington's Disease and Other Trinucleotide Repeat Disorders. New York: Oxford University Press; 2009.
10. The U.S.-Venezuela Collaborative Research Project and Wexler N. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A 2004;101:3498-503.
11. Hayden MR. Huntington's Chorea. Berlin: Springer-Verlag; 1981
12. Harper PS. The epidemiology of Huntington's disease. Hum Genet 1992;89:365-76.
13. Morrison PJ, Harding-Lester S, Bradley A. Uptake of Huntington's disease testing in a complete population. Clin Gen 2011;80:281-6.
14. Hoppitt T, Calvert M, Pall H, Rickards H, Sackley C. Huntington's disease. Lancet 2010;376:1463-4.
15. Rawlins M. Huntington's disease out of the closet? Lancet 2010;376:1372-3.
16. Warby SC, Visscher H, Collins JA, Doty CN et al. HTT haplotypes contribute to differences in Huntington's disease prevalence between Europe and Eas Asia Europ J Hum Genet 2011; 19:561-566.
17. Hayden MR, MacGregor, JM, Beighton, PH. The prevalence of Huntington's Chorea in South Africa. S Afr Med J 1980;58:193-6.
18. Reed TE, Chandler JH, Hughes EM, Davidson RT. Huntington's Chorea in Michigan: Demography and genetics. Am J Hum Genet 1958;10:201-25.
19. Folstein SE, Chase GA, Wahl WE, McDonnell AM, Folstein, MF. Huntington disease in Maryland: clinical aspects of racial variation. Am J Hum Genet 1987;41:168-79.
20. Panse F. Die Erbchorea: Eine klinische-genetische studie. Samml Psychiatr Neurol Einzeldarst, 18. Leipzig: Thieme; 1942.
21. The World Bank. Country Classifications, 2012. Available from http://data.worldbank.org/about/country-classifications.
22. R Development Core Team (2011). R: A Language and Environment for Statistical Computing, R Foundation for Statistical Computing, Vienna, Austria, ISBN 3-900051-07-0.
23. Bell J. Nervous Diseases and Muscular Dystrophies. In: Fisher RA, Penrose S, eds. The Treasury of Human Inheritance. Vol IV. Cambridge: Cambridge University Press, pp.1-69; 1948.
24. Cameron D, Venters GA. Some problems in Huntington's chorea. Scott Med J. 1967;12(4):152-6.
25. Bickford JAR, Ellison RM. The high incidence of Huntington's chorea in the Duchy of Cornwall. J Ment Sci. 1953;99(415):291-4.
26. Pleydell MJ. Huntington's chorea in Northamptonshire. Br Med J. 1954;2(4897):1121-8.
27. Pleydell MJ. Huntington's chorea in Northamptonshire. Br Med J. 1955;2(4944):889.
28. Hayden MR, MacGregor JM, Saffer DS, Beighton PH. The high frequency of juvenile Huntington's chorea in South Africa. J Med Genet. 1982;19(2):94-7.
29. Davenport CB, Muncey, EB. Huntington's Chorea in relation to history and eugenics. Am J Insan. 1916;73:195-222.
30. Spillane J, Phillips R. Huntington's Chorea in South Wales. Q J Med. 1937;6:403-423.
31. Brothers CR. Huntington's Chorea in Victoria and Tasmania. J Neurol Sci. 1964;1:405-420.
32. Heathfield KWG. Huntington's chorea: Investigation into the prevalence of this disease in the area covered by the North East Metropolitan Regional Hospital Board. Brain. 1967;90:203-232.
33. Oliver JE. Huntington's chorea in Northamptonshire. Br J Psychiatry. 1970;116:241-253.
34. Mattsson B. Clinical, genetic and pharmacological studies in Huntington's chorea. UMEA University Medical Dissertations 7. Sweden: UMEA:21-51; 1974.
35. Stevens DL. Huntington's chorea: a demographic, genetic and clinical study. MD thesis, University of London, pp. 1-338; 1976.
36. Walker DA, Harper PS, Wells CEC, Tyler A, Davies K, Newcombe RG. Huntington's Chorea in South Wales A genetic and epidemiological study. Clin Gen. 1981;19(4):213-221.
37. Myers RH, Madden JJ, Teague JL, Falek A. Factors related to onset age of Huntington disease. Am J Hum Genet. 1982;34(3):481-8.
38. Went LN, Vegter-van der Vlis M, Bruyn LW, Vlkers WS. Huntington's chorea in the Netherlands - The problem of genetic heterogeneity. Ann Hum Genet 1983;47(3):205-14
39. Di Maio L, Mengano A, Maggio MA, Michele G De, Campanella G. Paternal and maternal transmission in Huntington's disease. Acta Neurol. 1984;6(6):447-50.
40. Went LN, Vegter-van der Vlis M, Bruyn GW. Parental transmission in Huntington's disease. Lancet. 1984;1(8386):1100-2.
41. Farrer LA, Conneally PM. A genetic model for age at onset in Huntington disease. Am J Hum Genet. 1985;37(2):350-7.
42. Hayden MR, Soles JA, Ward RH. Age of onset in siblings of persons with juvenile Huntington disease. Clin Gen. 1985;28(2):100-5.
43. Groppi C, Barontini F, Bracco L, et al. Huntington's chorea: a prevalence study in the Florence area. Acta Neurol Scand. 1986;74(4):266-8.
44. Young AB, Shoulson I, Penney JB, et al. Huntington's disease in Venezuela: neurologic features and functional decline. Neurol. 1986;36(2):244-9.
45. Adams P, Falek A, Arnold J. Huntington disease in Georgia: age at onset. Am J of Hum Genet. 1988;43(5):695-704.
46. Frontali M, Malaspina P, Rossi C, et al. Epidemiological and linkage studies on Huntington's disease in Italy. Hum Genet. 1990;85(2):165-70.
47. Pavoni M, Granieri E, Govoni V, et al. Epidemiologic approach to Huntington's disease in northern Italy (Ferrara area). Neuroepidemiology. 1990;9(6):306-14.
48. Pridmore SA. Age of onset of Huntington's disease in Tasmania. Med J Aust. 1990;153(3):135-7.
49. Roos RA, Vegter-van der Vlis M, Hermans J, et al. Age at onset in Huntington's disease: effect of line of inheritance and patient's sex. J Med Genet. 1991;28(8):515-9.
50. Leung CM, Chan YW, Chang CM, Yu YL, Chen CN. Huntington's disease in Chinese: a hypothesis of its origin. J Neurol, Neurosurg, and Psychiatry. 1992;55(8):681-4.
51. Ridley RM, Farrer LA, Frith CD, Conneally PM. A test of the hypothesis that age at onset in Huntington disease is controlled by an X-linked recessive modifier. Am J Hum Genet. 1992;50(3):536-43
52. Morrison PJ, Nevin NC. Huntington disease in County Donegal: epidemiological trends over four decades. Ulster Med J. 1993;62(2):141-4
53. Roos RA, Hermans J, Vegter-van der Vlis M, Ommen GJ van, Bruyn GW. Duration of illness in Huntington's disease is not related to age at onset. J Neurol Neurosurg Psychiatry. 1993;56(1):98-100.
54. Simpson SA, Davidson MJ, Barron LH. Huntington's disease in Grampian region: correlation of the CAG repeat number and the age of onset of the disease. J Med Genet. 1993;30(12):1014-7.
55. Watt DC, Seller A. A clinico-genetic study of psychiatric disorder in Huntington's chorea. Psychol Med. 1993;Suppl 23:1-46.
56. Shiwach RS. Prevalence of Huntington's disease in the Oxford region. Br J Psychiatry: J Ment Sci. 1994;165(3):414-5.
57. Morrison PJ, Johnston WP, Nevin NC. The epidemiology of Huntington's disease in Northern Ireland. J Med Genet. 1995;32(7):524-30.
58. Alonso ME, Yescas P, Cisneros B, et al. Analysis of the (CAG)n repeat causing Huntington's disease in a Mexican population. Clin Gen. 1997;51(4):225-30.
59. Gómez-Tortosa E, Barrio A del, García Ruiz PJ, et al. Severity of cognitive impairment in juvenile and late-onset Huntington disease. Arch Neurol. 1998;55(6):835-43
60. Ataç FB, Elibol B, Schaefer F. The genetic analysis of Turkish patients with Huntington's disease. Acta Neurol Scand. 1999;100(3):195-8.
61. Foroud T, Gray J, Ivashina J, Conneally PM. Differences in duration of Huntington's disease based on age at onset. J Neurol Neurosurg Psychiatry. 1999;66(1):52-6
62. Louis ED, Lee P, Quinn L, Marder K. Dystonia in Huntington's disease: prevalence and clinical characteristics. Mov Disord. 1999;14(1):95-101.
63. Lima E Silva TC, Serra HG, Bertuzzo CS, Lopes-Cendes I. Molecular diagnosis of Huntington disease in Brazilian patients. Arq Neuropsiquiatr. 2000;58(1):11-7.
64. Raskin S, Allan N, Teive HA, et al. Huntington disease: DNA analysis in Brazilian population. Arq Neuropsiquiatr. 2000;58(4):977-85.
65. Rasmussen A, Macias R, Yescas P, et al. Huntington disease in children: genotype-phenotype correlation. Neuropediatrics. 2000;31(4):190-4.
66. 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 Gen. 2001;60(3):198-205.
67. Murgod UA, Saleem Q, Anand A, et al. A clinical study of patients with genetically confirmed Huntington's disease from India. J Neurol Sci. 2001;190(1-2):73-8.
68. Maat-Kievit A, Losekoot M, Zwinderman K, et al. Predictability of age at onset in Huntington disease in the Dutch population. Medicine. 2002;81(4):251-9.
69. Akbas F, Erginel-Unaltuna N. DNA testing for Huntington disease in the Turkish population. Eur Neurol. 2003;50(1):20-4.
70. Creighton S, Almqvist EW, MacGregor D, et al. Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987
71. do Camo Costa M, Magalhães P, Ferreirinha F, et al. Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice. Eur J Hum Genet:2003;11(11):872-8.
72. Cannella M, Gellera C, Maglione V, et al. The gender effect in juvenile Huntington disease patients of Italian origin. American journal of medical genetics. Part B, Am J Med Genet B Neuropsychiatr Genet. 2004;125B(1):92-8.
73. 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(3):337-42.
74. Ruocco HH, Lopes-Cendes I, Laurito TL, Li LM, Cendes F. Clinical presentation of juvenile Huntington disease. Arq Neuropsiquiatr 2006;64(1):5-9
75. Židovská J, Klempíř J, Kebrdlová V, et al. Huntington's Disease: Experience with Genetic Testing within 1994-2005. Cesk Slov Neurol N 2007; 70/103(1): 72-77
76. van Duijn E, Kingma EM, Timman R, et al. Cross-sectional study on prevalences of psychiatric disorders in mutation carriers of Huntington's disease compared with mutation-negative first-degree relatives. J Clin Psychiatry. 2008;69(11):1804-10.
77. Alonso ME, Ochoa A, Boll M-C, et al. Clinical and genetic characteristics of Mexican Huntington's disease patients. Movement. 2009;24(13):2012-5
78. Torres G, Timana C, Cornejo M, et al. Molecular diagnosis of Huntington's disease in Peruvian population. Mov Disord. 2010;25(Suppl. 2):S278
79. Office for National Statistics. Annual Mid-year Population Estimates, 2010. Available at: http://www.ons.gov.uk/ons/taxonomy/index.html?nscl=Population+Estimates. Accessed September 16, 2011.
80. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature.1983 Nov 17-23; 306(5940):234-8.