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Case Report
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
  • 2,907 View
  • 187 Download
  • 7 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
Review Article
Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management
Penelope Hogarth
J Mov Disord. 2015;8(1):1-13.   Published online January 31, 2015
  • 41,275 View
  • 1,039 Download
  • 152 Web of Science
  • 130 Crossref
AbstractAbstract PDF
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron deposition in the basal ganglia. The genetic basis of ten forms of NBIA is now known. The clinical features of NBIA range from rapid global neurodevelopmental regression in infancy to mild parkinsonism with minimal cognitive impairment in adulthood, with wide variation seen between and within the specific NBIA sub-type. This review describes the clinical presentations, imaging findings, pathologic features, and treatment considerations for this heterogeneous group of disorders.


Citations to this article as recorded by  
  • Olfactory status in neurodegeneration with brain iron accumulation disorders
    Elahe Amini, Mohammad Rohani, Maryam Jalessi, Zahra Azad, Franco Valzania, Francesco Cavallieri, Mohammad Farhadi, Zeinab Gholibeigian
    Neurological Sciences.2024; 45(2): 647.     CrossRef
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    Movement Disorders.2024; 39(2): 411.     CrossRef
  • Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management
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    Journal of Pediatric Orthopaedics.2024; 44(1): e61.     CrossRef
  • Transcranial sonography in neurodegeneration with brain iron accumulation disorders
    Seyed Amir Hassan Habibi, Sharmin Aghavali, Zahra Azad, Elahe Amini, Masoumeh Falah, Zeinab Gholibeigian, Narges Yazdi, Maziar Emamikhah, Mohammad Rohani
    Clinical Neurology and Neurosurgery.2024; 236: 108074.     CrossRef
  • Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders
    Elahe Amini, Mohammad Rohani, Anthony E. Lang, Zahra Azad, Seyed Amir Hassan Habibi, Afagh Alavi, Gholamali Shahidi, Maziar Emamikhah, Ahmad Chitsaz
    Movement Disorders Clinical Practice.2024; 11(1): 53.     CrossRef
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    Jiyun Lee, Jin Ju Kim, Chul Hyoung Lyoo, Yun Joong Kim
    Journal of Clinical Neurology.2024; 20(2): 220.     CrossRef
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    Parkinsonism & Related Disorders.2024; 123: 106103.     CrossRef
  • Genetic Targets and Applications of Iron Chelators for Neurodegeneration with Brain Iron Accumulation
    Neharika Marupudi, May P. Xiong
    ACS Bio & Med Chem Au.2024;[Epub]     CrossRef
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    Magdalena Tyczyńska, Marta Gędek, Adam Brachet, Wojciech Stręk, Jolanta Flieger, Grzegorz Teresiński, Jacek Baj
    Journal of Clinical Medicine.2024; 13(8): 2381.     CrossRef
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    Shubhrajit Roy, Sampurna Ghosh, Jharna Ray, Kunal Ray, Mainak Sengupta
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    Narges Hashemi, Reza Nejad Shahrokh Abadi, Afagh Alavi, Ali Reza Tavasoli, Mohammad Rohani
    Movement Disorders Clinical Practice.2023; 10(2): 331.     CrossRef
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    neurogenetics.2023; 24(2): 113.     CrossRef
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    Valaparambil Karthika Ajit, Prabhu Selvaraj, KP Divya, Bejoy Thomas, Ramshekhar N. Menon, Soumya Sundaram
    Indian Journal of Pediatrics.2023; 90(5): 519.     CrossRef
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    npj Parkinson's Disease.2023;[Epub]     CrossRef
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    Cheng Guo, Lei Chen, Yun Wang
    Archives of Toxicology.2023; 97(6): 1519.     CrossRef
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    Parkinsonism & Related Disorders.2023; 111: 105409.     CrossRef
  • Heme: The Lord of the Iron Ring
    Vanessa Azevedo Voltarelli, Rodrigo W. Alves de Souza, Kenji Miyauchi, Carl J. Hauser, Leo Edmond Otterbein
    Antioxidants.2023; 12(5): 1074.     CrossRef
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    Moustafa A. Mansour, Yehia Moawad, Hassan Ali
    eNeurologicalSci.2023; 31: 100469.     CrossRef
  • The Effects of Modulators of the Coenzyme A Biosynthesis System on Metabolic Stress and the Glutathione System in the CNS in Aluminum Neurotoxicosis
    D. S. Semenovich, V. A. Gurinovich, E. P. Lukienko, I. N. Katkovskaya, O. V. Titko, N. P. Kanunnikova, A. G. Moiseenok
    Neurochemical Journal.2023; 17(1): 65.     CrossRef
  • Late‐Onset Beta‐Propeller Protein‐Associated Neurodegeneration: A Case Report
    Roger Collet‐Vidiella, Gonzalo Olmedo‐Saura, Iñigo Ruiz‐Barrio, Ana Martínez‐Viguera, Benjamin Rodriguez‐Santiago, Sara Bernal, Jaime Kulisevsky, Javier Pagonabarraga
    Movement Disorders Clinical Practice.2023; 10(8): 1211.     CrossRef
  • The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families
    Narges Hashemi, Reza Nejad Shahrokh Abadi, Afagh Alavi, Mohammad Rohani, Aida Ghasemi, Ali Reza Tavasoli
    Neurological Sciences.2023; 44(12): 4359.     CrossRef
  • Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes
    Chloé Angelini, Christelle Marie Durand, Patricia Fergelot, Julie Deforges, Anne Vital, Patrice Menegon, Elizabeth Sarrazin, Rémi Bellance, Stéphane Mathis, Victoria Gonzalez, Mathilde Renaud, Solène Frismand, Emmanuelle Schmitt, Marie Rouanet, Lydie Burg
    Movement Disorders.2023; 38(11): 2103.     CrossRef
  • Treatment of Pantothenate-Kinase Neurodegeneration With Baclofen, Botulinum Toxin, and Deferiprone: A Case Report
    Marya Hameed, Fatima Siddiqui, Muhammad Khuzzaim Khan, Sindhura Tadisetty, Prasanna Kumar Gangishetti
    Brain & Neurorehabilitation.2023;[Epub]     CrossRef
  • Enzyme a Biosynthesis System on Manifestation of Metabolic Stress and Glutathione System in the CNS under Aluminium Neurotoxicosis
    D. S. Semenovich, V. A. Gurinovich, E. P. Lukiyenko, I. N. Katkovskaya, O. V. Titko, N. P. Kanunnikova, A. G. Moiseenok
    Нейрохимия.2023; 40(1): 48.     CrossRef
  • Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran
    Reza Hajati, Maziar Emamikhah, Fardad Danaee Fard, Mohammad Rohani, Afagh Alavi
    Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2022; 49(3): 338.     CrossRef
  • A Practical Approach to Early-Onset Parkinsonism
    Giulietta M. Riboldi, Emanuele Frattini, Edoardo Monfrini, Steven J. Frucht, Alessio Di Fonzo
    Journal of Parkinson's Disease.2022; 12(1): 1.     CrossRef
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    Steven Bellows, Joseph Jankovic
    Journal of the Neurological Sciences.2022; 433: 120018.     CrossRef
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    Swapnil Sheth, Seema Sud, Tarvinder B. S. Buxi, Salil Bhargava, Ratna Dua Puri, Sapna Sandal, C.S. Agrawal
    Journal of Pediatric Neurology.2022; 20(02): 133.     CrossRef
  • Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases
    Hana Kolarova, Jing Tan, Tim M. Strom, Thomas Meitinger, Matias Wagner, Thomas Klopstock
    eBioMedicine.2022; 77: 103869.     CrossRef
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    Sevcan Mercan, Sibel Aylin Ugur Iseri, Remzi Yigiter, Nihan Hande Akcakaya, Esen Saka, Zuhal Yapici
    Neurocase.2022; 28(1): 37.     CrossRef
    Akash Chheda, Dnyaneshwar V Jadhav, Sangeeta Ravat
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    I-Ting Lin, Ni-Chung Lee, Sung-Pin Fan, Chang-Jin Huang, PoWei Cheng, Jyh-Horng Chen, Chin-Hsien Lin
    Parkinsonism & Related Disorders.2022; 98: 114.     CrossRef
  • A Case of MPAN with “Eye of the Tiger Sign,” Mimicking PKAN
    Masoumeh Dehghan Manshadi, Mohammd Rohani, Ali Rezaei, Omid Aryani
    Movement Disorders Clinical Practice.2022; 9(5): 693.     CrossRef
  • Spinal cord stimulation for freezing of gait in Parkinson's disease and progressive supranuclear palsy: a case series
    Vladislav V. Kovalev, Ekaterina V. Bril, Maksim S. Semenov, Yury A. Seliverstov, Levan T. Lepsveridze
    Almanac of Clinical Medicine.2022; 50(5): 315.     CrossRef
  • Early Neuroimaging Markers in β Propeller Protein-Associated Neurodegeneration
    L. Chiapparini, G. Zorzi
    American Journal of Neuroradiology.2022; 43(12): 1815.     CrossRef
  • Deletion of ferritin H in neurons counteracts the protective effect of melatonin against traumatic brain injury‐induced ferroptosis
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    Journal of Pineal Research.2021;[Epub]     CrossRef
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    Journal of Movement Disorders.2021; 14(1): 86.     CrossRef
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    Journal of Pediatric Neurology.2021;[Epub]     CrossRef
  • Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
    Vassilena Iankova, Ivan Karin, Thomas Klopstock, Susanne A. Schneider
    Frontiers in Neurology.2021;[Epub]     CrossRef
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    Brain and Development.2021; 43(10): 1013.     CrossRef
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    Jae‐Hyeok Lee, Sang Ook Nam, Eun Kyoung Kim, Jin‐Hong Shin, Seung Hwan Oh, Dongryeol Ryu, Hye Eun Lee, Ji Young Mun
    American Journal of Medical Genetics Part A.2021; 185(12): 3866.     CrossRef
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    Developmental Medicine & Child Neurology.2021; 63(12): 1402.     CrossRef
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    Movement Disorders Clinical Practice.2021; 8(8): 1168.     CrossRef
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    Frontiers in Neurology.2020;[Epub]     CrossRef
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    Chemical Science.2019; 10(5): 1514.     CrossRef
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    Frontiers in Neuroscience.2019;[Epub]     CrossRef
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    Frontiers in Neuroscience.2019;[Epub]     CrossRef
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    American Journal of Medical Genetics Part A.2019; 179(11): 2237.     CrossRef
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  • Clinical case of a rare neurodegenerative disease with iron accumulation in the brain, type 4, in a 15-year-old child
    I. F. Fedoseeva, T. V. Poponnikova, G. Yu. Galieva, S. V. Moschnegootz
    Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).2019; 64(5): 109.     CrossRef
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    Daniel Savitt, Joseph Jankovic
    Neurology Clinical Practice.2019;[Epub]     CrossRef
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Case Report
Preserved Glucose Metabolism of Deep Cerebellar Nuclei in a Case of Multiple System Atrophy with Predominant Cerebellar Ataxia: F-18 Fluorodeoxyglucose Positron Emission Tomography Study
Oh Dae Kwon, Chang-Seok Ki
J Mov Disord. 2010;3(2):51-53.
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AbstractAbstract PDF

The cerebellar glucose metabolism of multiple system atrophy with predominant cerebellar ataxia (MSA-C) is known to be decreased but is not defined among areas of cerebellum. We encountered a 54-year-old man who developed dizziness and progressive ataxia followed by urinary incontinence and orthostatic hypotension, all of those symptoms progressed relentlessly and the symptoms responded poorly to levodopa therapy. Visual analysis and statistical parametric mapping analysis of F-18 fluorodeoxyglucose positron emission tomography showed hypometabolism of both cerebellar hemisphere, severe at cortical area, and pons. There was clear sparing of deep cerebellar nuclei. Our report, as we know, shows the first case of preserved glucose metabolism of deep cerebellar nuclei relative to cerebellar cortex in an MSA-C patient.

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