Inherited manganism: the cock-walk gait and typical neuroimaging features
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Data
2014-06-15
Autores
Avelino, Marcela Amaral [UNIFESP]
Fusao, Eduardo Ferracioli [UNIFESP]
Pedroso, Jose Luiz [UNIFESP]
Arita, Juliana Harumi [UNIFESP]
Ribeiro, Reinaldo Teixeira [UNIFESP]
Pinho, Ricardo Silva [UNIFESP]
Tuschl, Karin
Barsottini, Orlando G. P. [UNIFESP]
Masruha, Marcelo Rodrigues [UNIFESP]
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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. (C) 2014 Elsevier B.V. All rights reserved.
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Journal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 341, n. 1-2, p. 150-152, 2014.