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Inherited Manganese Disorders and the Brain: What Neurologists Need to Know

Although acquired manganese neurotoxicity has been widely reported since its first description in 1837 and is popularly referred to as “manganism,” inherited disorders of manganese homeostasis have received the first genetic signature as recently as 2012. These disorders, predominantly described in...

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Autores principales: Kapoor, Dipti, Garg, Divyani, Sharma, Suvasini, Goyal, Vinay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061520/
https://www.ncbi.nlm.nih.gov/pubmed/33911374
http://dx.doi.org/10.4103/aian.AIAN_789_20
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author Kapoor, Dipti
Garg, Divyani
Sharma, Suvasini
Goyal, Vinay
author_facet Kapoor, Dipti
Garg, Divyani
Sharma, Suvasini
Goyal, Vinay
author_sort Kapoor, Dipti
collection PubMed
description Although acquired manganese neurotoxicity has been widely reported since its first description in 1837 and is popularly referred to as “manganism,” inherited disorders of manganese homeostasis have received the first genetic signature as recently as 2012. These disorders, predominantly described in children and adolescents, involve mutations in three manganese transporter genes, i.e., SLC30A10 and SLC39A14 which lead to manganese overload, and SLC39A8, which leads to manganese deficiency. Both disorders of inherited hypermanganesemia typically exhibit dystonia and parkinsonism with relatively preserved cognition and are differentiated by the occurrence of polycythemia and liver involvement in the SLC30A10-associated condition. Mutations in SLC39A8 lead to a congenital disorder of glycosylation which presents with developmental delay, failure to thrive, intellectual impairment, and seizures due to manganese deficiency. Chelation with iron supplementation is the treatment of choice in inherited hypermanganesemia. In this review, we highlight the pathognomonic clinical, laboratory, imaging features and treatment modalities for these rare disorders.
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spelling pubmed-80615202021-04-27 Inherited Manganese Disorders and the Brain: What Neurologists Need to Know Kapoor, Dipti Garg, Divyani Sharma, Suvasini Goyal, Vinay Ann Indian Acad Neurol AIAN Review Although acquired manganese neurotoxicity has been widely reported since its first description in 1837 and is popularly referred to as “manganism,” inherited disorders of manganese homeostasis have received the first genetic signature as recently as 2012. These disorders, predominantly described in children and adolescents, involve mutations in three manganese transporter genes, i.e., SLC30A10 and SLC39A14 which lead to manganese overload, and SLC39A8, which leads to manganese deficiency. Both disorders of inherited hypermanganesemia typically exhibit dystonia and parkinsonism with relatively preserved cognition and are differentiated by the occurrence of polycythemia and liver involvement in the SLC30A10-associated condition. Mutations in SLC39A8 lead to a congenital disorder of glycosylation which presents with developmental delay, failure to thrive, intellectual impairment, and seizures due to manganese deficiency. Chelation with iron supplementation is the treatment of choice in inherited hypermanganesemia. In this review, we highlight the pathognomonic clinical, laboratory, imaging features and treatment modalities for these rare disorders. Wolters Kluwer - Medknow 2021 2021-02-05 /pmc/articles/PMC8061520/ /pubmed/33911374 http://dx.doi.org/10.4103/aian.AIAN_789_20 Text en Copyright: © 2006 - 2021 Annals of Indian Academy of Neurology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle AIAN Review
Kapoor, Dipti
Garg, Divyani
Sharma, Suvasini
Goyal, Vinay
Inherited Manganese Disorders and the Brain: What Neurologists Need to Know
title Inherited Manganese Disorders and the Brain: What Neurologists Need to Know
title_full Inherited Manganese Disorders and the Brain: What Neurologists Need to Know
title_fullStr Inherited Manganese Disorders and the Brain: What Neurologists Need to Know
title_full_unstemmed Inherited Manganese Disorders and the Brain: What Neurologists Need to Know
title_short Inherited Manganese Disorders and the Brain: What Neurologists Need to Know
title_sort inherited manganese disorders and the brain: what neurologists need to know
topic AIAN Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061520/
https://www.ncbi.nlm.nih.gov/pubmed/33911374
http://dx.doi.org/10.4103/aian.AIAN_789_20
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