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Jin-Hong Shin 2 Articles
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
  • 3,130 View
  • 189 Download
  • 8 Web of Science
  • 7 Crossref
AbstractAbstract 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.


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
  • 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
Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia
Aryun Kim, Mihee Jang, Han-Joon Kim, Yoon Kim, Dae-Seong Kim, Jin-Hong Shin, Beomseok Jeon
J Mov Disord. 2018;11(1):49-51.   Published online January 23, 2018
  • 7,561 View
  • 129 Download
  • 4 Web of Science
  • 4 Crossref


Citations to this article as recorded by  
  • Genetic updates on paroxysmal dyskinesias
    James Y. Liao, Philippe A. Salles, Umar A. Shuaib, Hubert H. Fernandez
    Journal of Neural Transmission.2021; 128(4): 447.     CrossRef
  • A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis-
    Akihiko Mitsutake, Takashi Matsukawa, Kristine Joyce L. Porto, Tatsuya Sato, Junko Katsumata, Tomonari Seki, Risa Maekawa, Takuto Hideyama, Masaki Tanaka, Hiroyuki Ishiura, Tatsushi Toda, Shoji Tsuji, Yasushi Shiio
    Journal of the Neurological Sciences.2020; 418: 117091.     CrossRef
  • Paroxysmal movement disorders – practical update on diagnosis and management
    Claudio M. De Gusmao, Laura Silveira-Moriyama
    Expert Review of Neurotherapeutics.2019; 19(9): 807.     CrossRef
  • The study of exercise tests in paroxysmal kinesigenic dyskinesia
    Hai-Yan Zhou, Fei-Xia Zhan, Wo-Tu Tian, Chao Zhang, Yan Wang, Ze-Yu Zhu, Xiao-Li Liu, Yang-Qi Xu, Xing-Hua Luan, Xiao-Jun Huang, Sheng-Di Chen, Li Cao
    Clinical Neurophysiology.2018; 129(11): 2435.     CrossRef

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