ArticleMovement disorders : official journal of the Movement Disorder Society2021
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
Article in Movement disorders : official journal of the Movement Disorder Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 29 citations in OpenAlex.
- Cardiovascular pharmacology of dopaminergic agents in humans: a review.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2026Review
- Update on Genetic Chorea.Current neurology and neuroscience reports · 2026Review
- Mice carrying the human dopamine D2 receptor pathogenic mutation p.Met374Arg exhibit hyperactivity and aberrant D2 receptor function.Molecular pharmacology · 2025Article
- Disease-Associated Dopamine Receptor D2 Variants Exhibit Functional Consequences Depending on Different Heterotrimeric G-Protein Subunit Combinations.Biomedicines · 2024Article
- Comparison of the function of two novel human dopamine D2 receptor variants identifies a likely mechanism for their pathogenicity.Biochemical pharmacology · 2024Article
- Clinical implications of genetic polymorphisms in blepharospasm.Experimental and therapeutic medicine · 2024Article
- Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.Current issues in molecular biology · 2024Review
- Differential diagnosis of chorea (guidelines of the German Neurological Society).Neurological research and practice · 2023Article
- Loss-of-Function Variants inCells · 2023Article
- Gait Abnormalities and Aberrant D2 Receptor Expression and Signaling in Mice Carrying the Human Pathogenic MutationMolecular pharmacology · 2023Article
- Genetic analysis of dystonia-related genes in Parkinson's disease.Frontiers in aging neuroscience · 2023Article
- Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous NonsenseMovement disorders clinical practice · 2023Review
- Subcellular localization of D2 receptors in the murine substantia nigra.Brain structure & function · 2022Article
- Commentary on "Novel Interaction of the Dopamine D2 Receptor and the CaMolecular pharmacology · 2021Article
- Signaling-Biased and Constitutively Active Dopamine D2 Receptor Variant.ACS chemical neuroscience · 2021Article
- Investigating the role of striatal dopamine receptor 2 in motor coordination and balance: Insights into the pathogenesis of DYT1 dystonia.Behavioural brain research · 2021Article
- Emerging and converging molecular mechanisms in dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
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13 authors at 4 institutions in 3 countries.
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Abstract
backgroundWe 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.
objectivesThe objective of this study was to identify the genetic cause of the disease and to further investigate the functional consequences of the genetic variant.
methodsAfter detailed clinical and neurological examination, whole-exome sequencing was performed. Because a novel variant in the DRD2 gene was found as the likely causative gene defect in our pedigree, we sequenced the DRD2 gene in a cohort of 121 Huntington-like cases with unknown genetic cause (Germany). Moreover, functional characterization of the DRD2 variant included arrestin recruitment, G protein activation, and G protein-mediated inhibition of adenylyl cyclase determined in a cell model, and G protein-regulated inward-rectifying potassium channels measured in midbrain slices of mice.
resultWe identified a novel heterozygous variant c.634A > T, p.Ile212Phe in exon 5 of DRD2 that cosegregated with the clinical phenotype. Screening of the German cohort did not reveal additional putative disease-causing variants. We demonstrated that the D2
conclusionsOur results support an association between the novel p.Ile212Phe variant in DRD2, its modified D2 receptor activity, and the hyperkinetic movement disorder reported in the 4-generation pedigree. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.