Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Thomas WirthLouise Laure MarianiGaber BergantMichel BaulacMarie-Odile HabertNathalie DrouotEmmanuelle OllivierAlenka HodžićGorazd RudolfPatrick NitschkeGabrielle RudolfJamel ChellyChristine TranchantMathieu AnheimEmmanuel RozePublished in: Movement disorders : official journal of the Movement Disorder Society (2020)
NR4A2 haploinsufficiency mutations have been recently reported in neurodevelopmental phenotypes. Our findings indicate that dystonia and/or parkinsonism may appear years after initial symptoms. Mutations in NR4A2 should be considered in patients with unexplained dystonia parkinsonism. © 2020 International Parkinson and Movement Disorder Society.