ArticleThe Journal of clinical investigation2012
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
Article in The Journal of clinical investigation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 55 citations in OpenAlex.
- A Case of Familial Paroxysmal Non-kinesigenic Dyskinesia in Mainland China: A Clinical and Genetic Investigation.Cureus · 2026Article
- The Second Hit Hypothesis in Animal and Human Dystonia: The Role of Peripheral Nerve Trauma and Spinal Cord Injury.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Article
- Striatal Indirect Pathway Dysfunction Underlies Motor Deficits in a Mouse Model of Paroxysmal Dyskinesia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Paroxysmal Non-Kinesigenic Choreoathetosis Case Report and a Review of the Pathogenesis.Cureus · 2022Article
- Preliminary study on pathogenic mechanism of first Chinese family with PNKD.Translational neuroscience · 2022Article
- Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice.Annals of clinical and translational neurology · 2021Article
- Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.Neurogenetics · 2021Article
- Genetic updates on paroxysmal dyskinesias.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.International journal of molecular sciences · 2020Review
- Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.Human molecular genetics · 2019Article
- The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.Molecular psychiatry · 2018Article
- Dopamine Receptor Agonist Treatment of Idiopathic Dystonia: A Reappraisal in Humans and Mice.The Journal of pharmacology and experimental therapeutics · 2018Article
- The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Movement disorders : official journal of the Movement Disorder Society · 2017Review
- Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.The Journal of clinical investigation · 2017Article
- Article
- Article
- The Chemical Biology of Human Metallo-β-Lactamase Fold Proteins.Trends in biochemical sciences · 2016Review
- PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.International journal of molecular sciences · 2015Article
- Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Paroxysmal nonkinesigenic dyskinesia (PNKD) is an autosomal dominant episodic movement disorder. Patients have episodes that last 1 to 4 hours and are precipitated by alcohol, coffee, and stress. Previous research has shown that mutations in an uncharacterized gene on chromosome 2q33-q35 (which is termed PNKD) are responsible for PNKD. Here, we report the generation of antibodies specific for the PNKD protein and show that it is widely expressed in the mouse brain, exclusively in neurons. One PNKD isoform is a membrane-associated protein. Transgenic mice carrying mutations in the mouse Pnkd locus equivalent to those found in patients with PNKD recapitulated the human PNKD phenotype. Staining for c-fos demonstrated that administration of alcohol or caffeine induced neuronal activity in the basal ganglia in these mice. They also showed nigrostriatal neurotransmission deficits that were manifested by reduced extracellular dopamine levels in the striatum and a proportional increase of dopamine release in response to caffeine and ethanol treatment. These findings support the hypothesis that the PNKD protein functions to modulate striatal neuro-transmitter release in response to stress and other precipitating factors.
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Registered trials
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.