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- Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene
- Jae-Hyeok Lee, Jin-Hong Shin
- J Mov Disord. 2022;15(2):171-174. Published online March 22, 2022
- DOI: https://doi.org/10.14802/jmd.21143
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- 9 Web of Science
- 8 Crossref
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Abstract
PDF - 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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Citations
Citations to this article as recorded by
- Magnetic Resonance Imaging and Manganism: A Narrative Review and Laboratory Recommendations
Michal Majewski, Karolina Piwko, Michal Ordak, Elzbieta Muszynska, Tadeusz Nasierowski, Magdalena Bujalska-Zadrozny
Journal of Clinical Medicine.2024; 13(10): 2823. CrossRef - Expression of Manganese Transporters ZIP8, ZIP14, and ZnT10 in Brain Barrier Tissues
Shannon Morgan McCabe, Ningning Zhao
International Journal of Molecular Sciences.2024; 25(19): 10342. CrossRef - Recent progress toward understanding the role of ZIP14 in regulating systemic manganese homeostasis
Shannon McCabe, Kirsten Limesand, Ningning Zhao
Computational and Structural Biotechnology Journal.2023; 21: 2332. CrossRef - Metal-ion transporter SLC39A8 is required for brain manganese uptake and accumulation
Qingli Liu, Supak Jenkitkasemwong, Tamanna Afrin Prami, Shannon Morgan McCabe, Ningning Zhao, Shintaro Hojyo, Toshiyuki Fukada, Mitchell D. Knutson
Journal of Biological Chemistry.2023; 299(8): 105078. CrossRef - Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish
Karin Tuschl, Richard J. White, Chintan Trivedi, Leonardo E. Valdivia, Stephanie Niklaus, Isaac H. Bianco, Chris Dadswell, Ramón González-Méndez, Ian M. Sealy, Stephan C. F. Neuhauss, Corinne Houart, Jason Rihel, Stephen W. Wilson, Elisabeth M. Busch-Nent
Disease Models & Mechanisms.2022;[Epub] CrossRef - Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models
Alexander N. Rodichkin, Tomás R. Guilarte
International Journal of Molecular Sciences.2022; 23(21): 12833. CrossRef - Pathophysiological studies of aging Slc39a14 knockout mice to assess the progression of manganese-induced dystonia-parkinsonism
Alexander N. Rodichkin, Melissa K. Edler, Jennifer L. McGlothan, Tomás R. Guilarte
NeuroToxicology.2022; 93: 92. CrossRef - Mechanisms of manganese-induced neurotoxicity and the pursuit of neurotherapeutic strategies
Edward Pajarillo, Ivan Nyarko-Danquah, Alexis Digman, Harpreet Kaur Multani, Sanghoon Kim, Patric Gaspard, Michael Aschner, Eunsook Lee
Frontiers in Pharmacology.2022;[Epub] CrossRef
- Magnetic Resonance Imaging and Manganism: A Narrative Review and Laboratory Recommendations
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