Huntington Disease: Predictive Genetic Testing

Abstract

Predictive testing for Huntington disease offers potential benefits to those at‐risk individuals who want to find out their genetic destiny in order to have greater control over their lives, although the potential psychological impact of the procedure must be carefully considered.

Figure 1.

The proband is at 50% risk for Huntington disease. His affected father inherited marker A from the affected grandfather and marker B from the unaffected grandmother. The proband has inherited from his father the genetic marker (A) which is transmitted with the HD mutation in his family and is therefore at high risk. Note that the test would have been uninformative if he had inherited the other marker (B) from his mother. □: males; ○: females; ▪: affected individuals.

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References

Almqvist EW, Bloch M, Brinkman R, Craufurd D and Hayden MR (1999) International HD Collaborative Group. A world‐wide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. American Journal of Human Genetics 64: 1293–1304.

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Huntington's disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Cell 72: 971–983.

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Wexler NS (1979) Genetic ‘Russian roulette’: the experience of being at risk for Huntington's disease. In: Kessler S (ed.) Genetic Counselling: Psychological Dimensions, pp. 119–220. New York, NY: Academic Press

Further Reading

Clinical Genetics Society (1994) Report of the Working Party on the genetic testing of children. Journal of Medical Genetics 31: 785–797.

Craufurd D and Tyler A (1992) Predictive testing for Huntington's disease: protocol of the UK HD Prediction Collaborative Group. Journal of Medical Genetics 29: 915–918.

International Huntington Association and World Federation of Neurology Research Group on Huntington's Chorea (1994) Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 44: 1533–1536.

Tibben A Predictive testing (2002) In: Bates G, Harper P and Jones L (eds.) Huntington's Disease, 3rd edn. Oxford, UK: Oxford University Press.

Web Links

Huntingtin (HD); LocusID: 3064. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3064

Huntingtin (HD); MIM number: 143100. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?143100

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How to Cite close
Craufurd, David(Sep 2006) Huntington Disease: Predictive Genetic Testing. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005633]