Literature DB >> 26002494

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

S Clément1, M Gargiulo2, J Feingold3, A Durr4.   

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.
Copyright © 2015. Published by Elsevier Masson SAS.

Entities:  

Keywords:  Family medical information; French legal obligations; Huntington's disease; Information de la parentèle; International recommendations; Maladie de Huntington; Obligations légales en France; Presymptomatic testing; Recommandations internationales; Test présymptomatique

Mesh:

Year:  2015        PMID: 26002494     DOI: 10.1016/j.neurol.2015.02.016

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  4 in total

Review 1.  Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Authors:  Gerald Pfeffer; Grace Lee; Carly S Pontifex; Roberto D Fanganiello; Allison Peck; Conrad C Weihl; Virginia Kimonis
Journal:  Genes (Basel)       Date:  2022-05-27       Impact factor: 4.141

2.  Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent.

Authors:  Adeline Bonnard; Ariane Herson; Marcela Gargiulo; Alexandra Durr
Journal:  Eur J Hum Genet       Date:  2018-09-11       Impact factor: 4.246

3.  Ethical and social implications of approaching death prediction in humans - when the biology of ageing meets existential issues.

Authors:  Marie Gaille; Marco Araneda; Clément Dubost; Clémence Guillermain; Sarah Kaakai; Elise Ricadat; Nicolas Todd; Michael Rera
Journal:  BMC Med Ethics       Date:  2020-07-27       Impact factor: 2.652

4.  Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.

Authors:  Maria Del Mar Amador; Marcela Gargiulo; Christilla Boucher; Ariane Herson; Stéphanie Staraci; François Salachas; Fabienne Clot; Cécile Cazeneuve; Isabelle Le Ber; Alexandra Durr
Journal:  Neurol Genet       Date:  2020-12-24
  4 in total

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