Article
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2021
van der Weijden Marlous C M, Rodriguez-Contreras Dayana, Delnooz Cathérine C S, Robinson Brooks G, Condon Alec F, Kielhold Michelle L, Stormezand Gilles N, Ma Kai Yu, Dufke Claudia, Williams John T, Neve Kim A, Tijssen Marina A J, Verbeek Dineke S
Abstract excerpt
BACKGROUND: We describe a 4-generation Dutch pedigree with a unique dominantly inherited clinical phenotype of a combined progressive chorea and cervical dystonia carrying a novel heterozygous dopamine D2 receptor (DRD2) variant. OBJECTIVES: The objective of this study was to identify the genetic cause of the disease and to further investigate the functional consequences of the genetic variant. METHODS: After...
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