Ontology highlight
ABSTRACT:
SUBMITTER: Schwartz M
PROVIDER: S-EPMC6764331 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Schwartz Mathias M Brandel Jean-Philippe JP Babonneau Marie Lise ML Boucher Christilla C Schaerer Elodie E Haik Stephane S Laplanche Jean Louis JL Gargiulo Marcela M Durr Alexandra A
Frontiers in genetics 20190920
<b>Purpose:</b> Presymptomatic testing for susceptibility to genetic prion diseases is often delivered in difficult circumstances, as the index case is often dying when a genetic diagnosis is obtained. Since test requests in these diseases are very rare, the factors underlying decisions of relatives to be tested or not and the long-term psychological consequences are not reported. <b>Methods:</b> We contacted subjects who had consulted between 2004 and 2017 because a relative carried a pathologi ...[more]