Article
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2022
Weissbach Anne, Pauly Martje G, Herzog Rebecca, Hahn Lisa, Halmans Sara, Hamami Feline, Bolte Christina, Camargos Sarah, Jeon Beomseok, Kurian Manju A, Opladen Thomas, Brüggemann Norbert, Huppertz Hans-Jürgen, König Inke R, Klein Christine, Lohmann Katja
Abstract excerpt
BACKGROUND: Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive dystonia (DRD). Diagnosis and treatment are often delayed due to high between- and within-group variability. OBJECTIVES: Comprehensively analyzed individual genotype, phenotype, treatment response, and biochemistry information. METHODS:...
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