Literature DB >> 24746291

Inherited manganism: the "cock-walk" gait and typical neuroimaging features.

Marcela Amaral Avelino1, Eduardo Ferracioli Fusão2, José Luiz Pedroso2, Juliana Harumi Arita2, Reinaldo Teixeira Ribeiro2, Ricardo Silva Pinho2, Karin Tuschl3, Orlando G P Barsottini2, Marcelo Rodrigues Masruha2.   

Abstract

Manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. This letter highlights the neurological manifestations and neuroimaging features of inherited manganism (IMn), an unusual and treatable inborn error of Mn homeostasis. Early-onset dystonia with "cock-walk" gait and hyperintense signal in basal ganglia, associated to polycythemia, chronic liver disease and hypermanganesemia, promptly suggest IMn, and a genetic evaluation should be performed.
Copyright © 2014 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Dystonia; Hypermanganesemia; Manganese; Manganism inherited; Movement disorders

Mesh:

Substances:

Year:  2014        PMID: 24746291     DOI: 10.1016/j.jns.2014.03.057

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  10 in total

1.  Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Authors:  Lance H Rodan; Marissa Hauptman; Alissa M D'Gama; Anita E Qualls; Siqi Cao; Karin Tuschl; Fatma Al-Jasmi; Jozef Hertecant; Susan J Hayflick; Marianne Wessling-Resnick; Edward T Yang; Gerard T Berry; Andrea Gropman; Alan D Woolf; Pankaj B Agrawal
Journal:  Mol Genet Metab       Date:  2018-04-06       Impact factor: 4.797

2.  Hypermanganesemia with Dystonia 1: A Novel Mutation and Response to Iron Supplementation.

Authors:  Zuhal Yapici; Karin Tuschl; Mefkure Eraksoy
Journal:  Mov Disord Clin Pract       Date:  2019-11-12

3.  Juvenile Dystonia-Parkinsonism Due to DNAJC6 Mutation.

Authors:  David Garza-Brambila; Claudia Nallely Esparza-Hernández; Jorge Ramirez-Zenteno; Daniel Martinez-Ramirez
Journal:  Mov Disord Clin Pract       Date:  2021-09-03

Review 4.  Movement Disorders and Hematologic Diseases.

Authors:  Roshni Abee Patel; Deborah A Hall; Sheila Eichenseer; Meagan Bailey
Journal:  Mov Disord Clin Pract       Date:  2020-12-29

Review 5.  Disorders of metal metabolism.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-12-18

Review 6.  Genetic Disorders of Manganese Metabolism.

Authors:  S Anagianni; K Tuschl
Journal:  Curr Neurol Neurosci Rep       Date:  2019-05-14       Impact factor: 5.081

7.  A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism.

Authors:  Azita Tavasoli; Khadije Arjmandi Rafsanjani; Saba Hemmati; Marziyeh Mojbafan; Elham Zarei; Soudabeh Hosseini
Journal:  BMC Pediatr       Date:  2019-07-09       Impact factor: 2.125

Review 8.  Inherited Manganese Disorders and the Brain: What Neurologists Need to Know.

Authors:  Dipti Kapoor; Divyani Garg; Suvasini Sharma; Vinay Goyal
Journal:  Ann Indian Acad Neurol       Date:  2021-02-05       Impact factor: 1.383

9.  Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism.

Authors:  Christopher D Stephen; Criscely L Go; Patrick Acuna; Nutan Sharma
Journal:  Mov Disord Clin Pract       Date:  2020-03-26

10.  Hypermanganesemia Induced Chorea and Cognitive Decline in a Tea Seller.

Authors:  Ritwik Ghosh; Souvik Dubey; Subhankar Chatterjee; Mrinalkanti Ghosh; Biman Kanti Ray; Julián Benito-León
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2020-10-20
  10 in total

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