Uptake of Huntington disease predictive testing in a complete population

Clinical Genetics

Volumn 80, Issue 3, 2011, Pages 281-286

  Morrison, Pj ^a,b   Harding Lester, S ^a   Bradley, A ^a  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF ULSTER   (United Kingdom)

Author keywords

Huntington disease; Predictive testing; Prevalence; Uptake

Indexed keywords

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; FAMILY; FEMALE; GENETIC SCREENING; HIGH RISK PATIENT; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MALE; POPULATION; PREDICTIVE VALUE; PREVALENCE; PRIORITY JOURNAL; RISK; SYMPTOM;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ASYMPTOMATIC DISEASES; FEMALE; GENETIC TESTING; GENETICS, POPULATION; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; NORTHERN IRELAND; NUCLEAR PROTEINS; POPULATION SURVEILLANCE; PREDICTIVE VALUE OF TESTS; PREVALENCE;

EID: 79961112164     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01538.x     Document Type: Article

References (23)

1. Morrison PJ. Trinucleotide repeat repeat repeat. Lancet 1993: 342: 385-386.
2. Morrison PJ, Johnston WP, Nevin NC. The epidemiology of Huntington disease in Northern Ireland. J Med Genet 1995: 32: 524-530.
3. Morrison PJ, Nevin NC. Huntington disease in County Donegal: epidemiological trends over four decades. Ulster Med J 1993: 62: 141-144.
4. Morrison PJ. The epidemiology of Huntington disease in Ireland. J Ir Coll Physicians Surg 1995: 24: 253-256.
5. Tyler A, Ball D, Craufurd D. On behalf of The UK Huntington's Disease Prediction Consortium: presymptomatic testing for Huntington's disease in the United Kingdom. Br Med J 1992: 304: 1593-1596.
6. Craufurd D, Tyler A. On behalf of the UK Huntington's Disease Prediction Consortium: predictive testing for Huntington's disease: protocol of the UK Huntington's Prediction Consortium. J Med Genet 1992: 29: 915-918.
7. Simpson SA, Harding AE. On behalf of The United Kingdom Huntington's Disease Prediction Consortium: predictive testing for Huntington's disease: after the gene. J Med Genet 1993: 30: 1036-1038.
8. Harper PS, Lim C, Craufurd D. On behalf of The United Kingdom Huntington's disease Prediction Consortium: ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's disease prediction consortium. J Med Genet 2000: 37: 567-571.
9. Benjamin CM, Lashwood A. On behalf of The United Kingdom Huntington's Disease Prediction Consortium: United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington's disease. Clin Genet 2000: 58: 41-49.
10. Rubinsztein DC, Leggo J, Coles R et al. Phenotypic characterization of individuals with 30 to 40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996: 59: 16-22.
11. Djoussé L, Knowlton B, Hayden M et al. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet 2003: 119A: 279-282.
12. Quarrell O, Rigby AS, Dalton A et al. Reduced penetrance alleles for Huntington's disease: a multicentre direct observational study. J Med Genet 2007: 44: e68. DOI: 10.1136/jmg.2006.045120.
13. Conneally PM. Huntington disease: genetics and epidemiology. Am J Hum Genet 1984: 36: 506-526.
14. Tassicker RJ, Teltscher B, Trembath MK et al. Problems assessing uptake of Huntington disease predictive testing and a proposed solution Eur J Hum Genet 2009: 17 (1): 66-70.
15. Bernhardt C, Schwan AM, Kraus P, Epplen JT, Kunstmann E. Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years experience (1993-2004). Eur J Hum Genet 2009: 17: 295-300.
16. Holloway S, Mennie M, Crosbie A et al. Predictive testing for Huntington disease: social characteristics and knowledge of applicants, attitudes to the test procedure and decisions made after testing. Clin Genet 1994: 46: 175-180.
17. Simpson SA, Besson J, Alexander D, Allan K, Johnston AW. One hundred requests for predictive testing for Huntington's disease. Clin Genet 1992: 41: 326-330.
18. Forrest Keenan K, van Teijlingen E, McKee L, Miedzybrodzka Z, Simpson SA. How young people find out about their family history of Huntington's disease. Soc Sci Med 2009: 68 (10): 1892-1900.
19. The World Federation of Neurology Research Group on Huntington's disease. Presymptomatic testing for Huntington's disease: a world-wide survey. J Med Genet 1993: 30: 1020-1022.
20. Morrison PJ. Genetic testing and insurance in the UK. Clin Genet 1998: 54: 375-379.
21. Morrison PJ. Insurance, unfair discrimination, and genetic testing. Lancet 2005: 359 (9489): 277-280.
22. Clarke A, Richards M, Kerzin-Storrar L et al. Genetic professionals' reports of nondisclosure of genetic risk information within families. Eur J Hum Genet 2005: 13: 556-562.
23. Bombard Y, Veenstra G, Friedman JM et al. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. Br Med J 2009: 338: b2175. DOI: 10.1136/bmj.b2175.