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Brain Research Bulletin
Volume 72, Issues 2-3, 30 April 2007, Pages 165-171
Proceedings of the Second World Congress on Huntington's Disease held in Manchester, England, 11-13 September 2005
 
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doi:10.1016/j.brainresbull.2006.10.023    How to Cite or Link Using DOI (Opens New Window)
Copyright © 2006 Elsevier Inc. All rights reserved.

Predictive testing for Huntington's disease

Aad Tibbena, E-mail The Corresponding Author

aCentre for Human and Clinical Genetics, Leiden University Medical Centre, P.O. Box 9600, 2300 RC Leiden, The Netherlands

Available online 9 November 2006.

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Abstract

Worldwide, predictive testing for Huntington's disease has become an accepted clinical application that has allowed many individuals from HD-families to proceed with their life without the uncertainty of being at risk. International guidelines have extensively contributed to establishing counselling programmes of high quality, and have served as a model for other genetic disorders. Psychological follow-up studies have increased the insight into the far-reaching impact of test results for all individuals involved. Although the guidelines have served as a useful frame of reference, clinical experience has shown the importance of a case-by-case approach to do justice to the specific needs of the individual test candidate. Issues such as ambiguous test results, lack of awareness in a test candidate of early signs of the disease, non-compliance to the test protocol, or the test candidate's need for information on the relationship between age at onset and CAG-repeat require careful consideration. Receiving a test result is only one of the transition points in the life of an individual at risk; such result needs to be valued from a life-cycle perspective.

Keywords: Huntington's disease; Predictive testing; Life cycle

Article Outline

1. Uptake of testing
2. Reactions to test results
3. A closer look
4. Predictive testing and partners
5. The international guidelines
6. The counselling programme
7. The neurological examination
8. Psychological or psychiatric examination
9. Predictability of impact of test results
10. Ambiguous test results
11. CAG-repeat and age of onset
12. Prenatal testing
13. Support to carriers
14. Huntington's disease and the life-cycle orientation
References

Brain Research Bulletin
Volume 72, Issues 2-3, 30 April 2007, Pages 165-171
Proceedings of the Second World Congress on Huntington's Disease held in Manchester, England, 11-13 September 2005
 
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