Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France.

Rev Neurol (Paris)

Département de génétique et cytogénétique, groupe hospitalier de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Institut de myologie, groupe hospitalier de la Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Inserm U1127, CNRS UMR7225, UMR_S975, institut du cerveau et de la moelle épinière, hôpital de la Salpêtrière, UPMC - Paris VI, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France. Electronic address:

Published: March 2016

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Article Abstract

Huntington's disease was the first adult onset neurological disease for which presymptomatic genetic testing became possible. It served as a model for the approach which constituted a radical change in medical practice and provided an important framework for multi-step, multidisciplinary, counselling for at risk persons. We will review the historical context of guidelines and good clinical practices, the experiences of our team which covers more than 20 years of presymptomatic testing for Huntington's disease in France, and explore the impact of the new French legislation for the future of presymptomatic testing of diseases for which neither preventive measures nor curative treatments are yet available.

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http://dx.doi.org/10.1016/j.neurol.2015.02.016DOI Listing

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