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Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France.
Clément, S; Gargiulo, M; Feingold, J; Durr, A.
Afiliação
  • Clément S; EA1610, département de recherche en éthique, centre scientifique d'Orsay, université Paris Sud, bâtiment 407, 91405 Orsay cedex, France.
  • Gargiulo M; EA 4056, laboratoire de psychologie clinique et psychopathologie, institut de psychologie, Sorbonne Paris Cité, université Paris Descartes, 71, avenue Édouard-Vaillant, 92774 Boulogne-Billancourt cedex, France; Département de génétique et cytogénétique, groupe hospitalier de la Pitié-Salpêtrière, AP
  • Feingold J; Département de génétique et cytogénétique, groupe hospitalier de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France.
  • Durr A; 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
Rev Neurol (Paris) ; 171(6-7): 572-80, 2015.
Article em En | MEDLINE | ID: mdl-26002494
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Guias como Assunto / Doença de Huntington / Diagnóstico Precoce Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Guias como Assunto / Doença de Huntington / Diagnóstico Precoce Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article