ArticleJournal of inherited metabolic disease2016
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 53 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
- A comparative exploration of monoamine neurotransmitter transport disorders: mechanisms, clinical manifestations, and therapeutic approaches.Journal of medicine and life · 2025Review
- Neurotoxicology of dopamine: Victim or assailant?Neurotoxicology · 2024Review
- Synaptic vesicle glycoprotein 2C enhances vesicular storage of dopamine and counters dopaminergic toxicity.The European journal of neuroscience · 2024Article
- Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.Annals of clinical and translational neurology · 2024Article
- Article
- Transport and inhibition mechanism for VMAT2-mediated synaptic vesicle loading of monoamines.Cell research · 2024Article
- Review
- Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.Genes · 2023Review
- Identification of Hub Genes and Potential Molecular Pathogenesis in Substantia Nigra in Parkinson's Disease via Bioinformatics Analysis.Parkinson's disease · 2023Article
- DNA methylation as a potential mediator of the association between prenatal tobacco and alcohol exposure and child neurodevelopment in a South African birth cohort.Translational psychiatry · 2022Article
- Review
- 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
- Spotlight on Oculogyric Crisis: A Review.Indian journal of psychological medicine · 2021Review
- Acquired dysregulation of dopamine homeostasis reproduces features of Parkinson's disease.NPJ Parkinson's disease · 2020Article
- A novel missense variant inJIMD reports · 2019Article
- Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism.Movement disorders : official journal of the Movement Disorder Society · 2018Review
- Modelling brain dopamine-serotonin vesicular transport disease inDisease models & mechanisms · 2018Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two male siblings from a consanguineous union presented in early infancy with marked truncal hypotonia, a general paucity of movement, extrapyramidal signs and cognitive delay. By mid-childhood they had made little developmental progress and remained severely hypotonic and bradykinetic. They developed epilepsy and had problems with autonomic dysfunction and oculogyric crises. They had a number of orthopaedic problems secondary to their hypotonia. Cerebrospinal fluid (CSF) neurotransmitters were initially normal, apart from mildly elevated 5-hydroxyindolacetic acid, and the children did not respond favourably to a trial of levodopa-carbidopa. The youngest died from respiratory complications at 10 years of age. Repeat CSF neurotransmitters in the older sibling at eight years of age showed slightly low homovanillic acid and 5-hydroxyindoleacetic acid levels. Whole-exome sequencing revealed a novel mutation homozygous in both children in the monoamine transporter gene SLC18A2 (p.Pro237His), resulting in brain dopamine-serotonin vesicular transport disease. This is the second family to be described with a mutation in this gene. Treatment with the dopamine agonist pramipexole in the surviving child resulted in mild improvements in alertness, communication, and eye movements. This case supports the identification of the causal mutation in the original case, expands the clinical phenotype of brain dopamine-serotonin vesicular transport disease and confirms that pramipexole treatment may lead to symptomatic improvement in affected individuals.
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