ArticleJournal of movement disorders2022
Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene.
Article in Journal of movement disorders, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- Manganese: biology, physiology and role in disease.Cell discovery · 2026Review
- SLC39A14 is Required for Iron Loading of the Anterior Pituitary of Mice with Genetic Iron Overload.Biological trace element research · 2026Article
- Cerebellar dysfunction in a mouse model of childhood-onset manganese-induced dystonia parkinsonism.Neurobiology of disease · 2025Article
- Removal of Toxic Metabolites-Chelation: Manganese Disorders.Journal of inherited metabolic disease · 2025Review
- An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics.iScience · 2025Article
- Manganese-Induced Parkinsonism: A Review of Etiologies and Treatments.Degenerative neurological and neuromuscular disease · 2025Review
- Expression of Manganese Transporters ZIP8, ZIP14, and ZnT10 in Brain Barrier Tissues.International journal of molecular sciences · 2024Article
- Magnetic Resonance Imaging and Manganism: A Narrative Review and Laboratory Recommendations.Journal of clinical medicine · 2024Review
- Metal-ion transporter SLC39A8 is required for brain manganese uptake and accumulation.The Journal of biological chemistry · 2023Article
- A simple and highly reproducible method for the detection of erythrocyte membrane ZIP metal transporters by immunoblotting.Methods in enzymology · 2023Article
- Recent progress toward understanding the role of ZIP14 in regulating systemic manganese homeostasis.Computational and structural biotechnology journal · 2023Review
- Pathophysiological studies of aging Slc39a14 knockout mice to assess the progression of manganese-induced dystonia-parkinsonism.Neurotoxicology · 2022Article
- Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism inInternational journal of molecular sciences · 2022Review
- Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish.Disease models & mechanisms · 2022Article
- Mechanisms of manganese-induced neurotoxicity and the pursuit of neurotherapeutic strategies.Frontiers in pharmacology · 2022Review
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2 authors at 1 institution in 1 country.
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Abstract
Mutations in the manganese transporter gene SLC39A14 lead to inherited disorders of manganese metabolism. Chelation therapy with edetate calcium disodium (CaNa2EDTA) is known to effectively reduce manganese deposition. We describe the first identified Korean case of SLC39A14-associated manganism and the treatment response to a 5-year chelation therapy. An 18-year-old female presented with childhood-onset dystonia. Magnetic resonance imaging showed T1 hyperintensity throughout the basal ganglia, brainstem, cerebellum, cerebral and cerebellar white matter, and pituitary gland. Blood manganese levels were elevated, and whole-exome sequencing revealed compound heterozygous mutations in SLC39A14. Treatment with intravenous CaNa2EDTA led to a significant reduction in serum manganese levels and T1 hyperintensities. However, her dystonia improved insignificantly. Hence, early diagnosis of this genetic disorder is essential because it is potentially treatable. Even though our treatment did not significantly reverse the establish deficits, chelation therapy could have been more effective if it was started at an earlier stage of the disease.
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