Abstract
Pre-symptomatic testing for Huntington’ s disease (HD) has been available as a clinical service in the medical centres of Rome and Genoa since December 1987, initially by DNA-linkage and since mid-1993 by direct mutation analysis. A multidisciplinary approach and a protocol which follows the Ethical Issue Policy Statement on Huntington’s Disease Molecular Genetics Predictive Test has been used. In the period under study, 332 subjects requested the test, 288 were enrolled in the protocol and nearly half of these completed it. One hundred and forty-eight people withdrew from the testing procedure for various reasons but most frequently due to a more realistic evaluation of all possible consequences of test results, induced by psychological counselling. Therefore, 140 people completed the test. The overall gene-carrier/non-carrier ratio was 0.46:1. None of the identified gene carriers had catastrophic reactions such as suicide, suicide attempts or major psychiatric disorders. All appear to have had a similar pattern of reactions to an adverse result and none expressed regret for undergoing the test. In conclusion, presymptomatic testing for HD can be considered a safe procedure without adverse consequences when framed in an integrated protocol at qualified genetic centres.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Hayden M (1981) Huntington’s chorea. Springer-Verlag, Berlin Heidelberg New York
Harper P (1991) Huntington’ s disease. WB Saunders, London
Frontali M, Malaspina P, Rossi C et al (1990) Epidemiological and linkage studies on Huntington’s disease in Italy. Human Genetics 85:165–170
Lucci B, Mainini P, Lucci B, Casoli C, Ferrarini G (I982) Prevalenza della malattia di Huntington nelle Provincie di Reggio Emilia e Parma. In: Atti II Convegno Nazionale Neuroepidemiologia, Milan, 26–27 February 1982
Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, Young AB, Soulson I, Banilla E, Martin JP (1983) A polymorphic DNA marker genetically linked to Huntington’s disease. Nature 306:234–238
Farrer LA, Myers RH, Cupples LA, Conneally PM (1988) Considerations in using linkage analysis as a presymptornatic test for Huntington’s disease. J Med Genet 25:577–588
Gusella JF (1986) Probes in Huntington’s chorea. Reply. Nature 320:21
Chapman MA (1990) Predictive testing for adult-onset genetic diseases: Ethical and legal implications of the use of linkage analysis for Huntington’s disease. Am J Hum Genet 47:1–3
World Federation of Neurology Research Group on Huntington’s Disease (1990) Guidelines for the molecular genetics predictive test in Huntington’s s disease. J Med Genet 27:34–40
Huntington’s Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72(6):971–983
Warner JP, Barron LH, Brock DJH (1993) A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington’s s disease chromosomes. Mol Cell Probes 7:235–239
Kremer B, Goldberg P, Andrew SE et al (1994) A worldwide study of the Huntington’s disease mutation: The sensitivity and specificity of measuring CAG repeats. N Engl J Med 330(20):1401–1406
Rubinsztein DC, Leggo J, Coles R et al (1996) Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 re peats and apparently normal elderly individuals with 36–39 repeats. Am J Hum Genet 59(1):16–22
Novelletto A, Persichetti F, Sabbadini G et al (1994) Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet 3(1):93–98
Novelletto A, Persichetti F, Sabbadini G et al (1994) Polymorphism analysis of the Huntington gene in Italian families affected with Huntington’s disease. Hum Mol Genet 3:1129–1132
International Huntington Association and World Federation of Neurology Research Group on Huntington’s s Chorea (1994) Guidelines for the molecular genetics predictive test in Huntington’s s disease. Neurology 44(8):1533–1536
Novelletto A, Mandich P, Bellone E et al (1991) Non-random association between DNA markers and Huntington disease locus in the Italian population. Am J Med Genet 40(3):374–376
Huggins M, Bloch M, Wiggins S et al (1992) Predictive testing for Huntingtons disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genet 42:508–515
Jacopini AG (1993) Predictive testing for HD: The bad effect of good news. 15th Int. WFN workshop on HD, Waltham Mass
Bloch M, Adam S, Hayden M, CCSPTHD (1996) A survey of catastrophic events following predictive testing for Huntington disease. Am J Hum Genet 59 [Suppl]:A333
European Community Huntington’s Disease Collaborative Study Group (1993) Ethical and social issues in presymptomatic testing for Huntington’s disease: A European Community collaborative study. J Med Genet 30:1028–1035
Codori AM, Hanson R, Brandt J (1994) Self-selection in predictive testing for Huntington’s disease. Am J Med Genet 54(3):167–173
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Mandich, P., Jacopini, G., Di Maria, E. et al. Predictive testing for Huntington’s disease: ten years’ experience in two Italian centres. Ital J Neuro Sci 19, 68–74 (1998). https://doi.org/10.1007/BF02427559
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02427559