ArticleJIMD reports2019
A novel missense variant in
Article in JIMD reports, 2019. 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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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- Phenotypic Clues in Infantile-Onset Parkinsonism-Dystonia-2: A Treatable Neurotransmitter Disorder.Movement disorders clinical practice · 2026Article
- Identification of a NovelCase reports in neurological medicine · 2026Article
- Tricyclic and tetracyclic antidepressants upregulate VMAT2 activity and rescue disease-causing VMAT2 variants.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Neurotoxicology of dopamine: Victim or assailant?Neurotoxicology · 2024Review
- Dopamine synthesis and transport: current and novel therapeutics for parkinsonisms.Biochemical Society transactions · 2024Review
- Article
- Transport and inhibition mechanism for VMAT2-mediated synaptic vesicle loading of monoamines.Cell research · 2024Article
- Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2.Case reports in neurological medicine · 2024Article
- Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.Genes · 2023Review
- High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.American journal of human genetics · 2021Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- Genetic Dystonias: Update on Classification and New Genetic Discoveries.Current neurology and neuroscience reports · 2021Review
- Acquired dysregulation of dopamine homeostasis reproduces features of Parkinson's disease.NPJ Parkinson's disease · 2020Article
- Article
- Selective Knockout of theFrontiers in behavioral neuroscience · 2020Article
- A novel missense variant inJIMD reports · 2019Article
- Oculogyric Crisis in a Girl with Infantile Parkinsonism-Dystonia-2.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBrain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in CASE PRESENTATION: The presented case is of a child, born of healthy consanguineous parents, who exhibited hypotonia, mental disability, epilepsy, uncontrolled movements, and gastrointestinal problems. A trial treatment with L-DOPA proved unsuccessful and the exact neurological involvement could not be discerned due to normal metabolic and brain magnetic resonance imaging results.Platelet studies and whole genome sequencing were performed. At age 4, the child's platelets showed a mild aggregation and adenosine triphosphate secretion defect that could be explained by dysmorphic dense granules observed by electron microscopy. Interestingly, the dense granules were almost completely depleted of serotonin. A novel homozygous p.P316A missense variant in VMAT2 was detected in the patient and the consanguineous parents were found to be heterozygous for this variant. Although the presence of VMAT2 on platelet dense granules has been demonstrated before, this is the first report of defective platelet dense granule function related to absent serotonin storage in a patient with VMAT2 deficiency but without obvious clinical bleeding problems.
conclusionsThis study illustrates the homology between serotonin metabolism in brain and platelets, suggesting that these blood cells can be model cells for some pathways relevant for neurological diseases. The literature on VMAT2 deficiency is reviewed.
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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.