ArticleMovement disorders : official journal of the Movement Disorder Society2018
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Article in Movement disorders : official journal of the Movement Disorder Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 67 citations in OpenAlex.
- Update on Genetic Chorea.Current neurology and neuroscience reports · 2026Review
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Update on Genetic Chorea.European journal of neurology · 2025Review
- Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Positive Effects of Caffeine Therapy in a Girl with PDE2A-Related Paroxysmal Dyskinesia.Movement disorders clinical practice · 2025Article
- Cyclic nucleotide phosphodiesterases as drug targets.Pharmacological reviews · 2025Review
- Longevity, enhanced memory, and altered density of dendritic spines in hippocampal CA3 and dentate gyrus after hemizygous deletion of Pde2a in mice.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2025Article
- Modulation of cAMP/cGMP signaling as prevention of congenital heart defects in Pde2A deficient embryos: a matter of oxidative stress.Cell death & disease · 2024Article
- Phosphodiesterase 2 and Its Isoform A as Therapeutic Targets in the Central Nervous System Disorders.CNS & neurological disorders drug targets · 2024Review
- Allelic heterogeneity and abnormal vesicle recycling inFrontiers in molecular neuroscience · 2024Article
- Targeting Striatal Glutamate and Phosphodiesterases to Control L-DOPA-Induced Dyskinesia.Cells · 2023Review
- De novo KCNA6 variants with attenuated KEpilepsia · 2023Article
- Loci Associated with Negative Heterosis for Viability and Meat Productivity in Interspecific Sheep Hybrids.Animals : an open access journal from MDPI · 2023Article
- Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous NonsenseMovement disorders clinical practice · 2023Review
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.Frontiers in neurology · 2022Review
- The Emerging Role of Phosphodiesterases in Movement Disorders.Movement disorders : official journal of the Movement Disorder Society · 2021Review
- Role of phosphodiesterases in the pathophysiology of neurodevelopmental disorders.Molecular psychiatry · 2021Review
- Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.Brain sciences · 2021Article
- Update on the Classification and Pathophysiological Mechanisms of Pediatric Cardiorenal Syndromes.Children (Basel, Switzerland) · 2021Review
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Authors and funding
15 authors at 8 institutions in 6 countries.
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Abstract
backgroundWe investigated a family that presented with an infantile-onset chorea-predominant movement disorder, negative for NKX2-1, ADCY5, and PDE10A mutations.
methodsPhenotypic characterization and trio whole-exome sequencing was carried out in the family.
resultsWe identified a homozygous mutation affecting the GAF-B domain of the 3',5'-cyclic nucleotide phosphodiesterase PDE2A gene (c.1439A>G; p.Asp480Gly) as the candidate novel genetic cause of chorea in the proband. PDE2A hydrolyzes cyclic adenosine/guanosine monophosphate and is highly expressed in striatal medium spiny neurons. We functionally characterized the p.Asp480Gly mutation and found that it severely decreases the enzymatic activity of PDE2A. In addition, we showed equivalent expression in human and mouse striatum of PDE2A and its homolog gene, PDE10A.
conclusionsWe identified a loss-of-function homozygous mutation in PDE2A associated to early-onset chorea. Our findings possibly strengthen the role of cyclic adenosine monophosphate and cyclic guanosine monophosphate metabolism in striatal medium spiny neurons as a crucial pathophysiological mechanism in hyperkinetic movement disorders. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
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