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

S Clément1, M Gargiulo2, J Feingold3

  • 1EA1610, département de recherche en éthique, centre scientifique d'Orsay, université Paris Sud, bâtiment 407, 91405 Orsay cedex, France.

Revue Neurologique
|May 24, 2015
PubMed

Keywords:
Family medical informationFrench legal obligationsHuntington's diseaseInformation de la parentèleInternational recommendationsMaladie de HuntingtonObligations légales en FrancePresymptomatic testingRecommandations internationalesTest présymptomatique

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...