title: Inherited manganism: the "cock-walk" gait and typical neuroimaging features.
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.
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: marcelavelino@yahoo.com.br.
authors.forename: Marcela Amaral
authors.initials: MA
authors.lastname: Avelino
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Eduardo Ferracioli
authors.initials: EF
authors.lastname: Fusão
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Juliana Harumi
authors.initials: JH
authors.lastname: Arita
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Reinaldo Teixeira
authors.initials: RT
authors.lastname: Ribeiro
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Ricardo Silva
authors.initials: RS
authors.lastname: Pinho
authors.affiliation: Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.
authors.forename: Karin
authors.initials: K
authors.lastname: Tuschl
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Orlando G P
authors.initials: OG
authors.lastname: Barsottini
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Marcelo Rodrigues
authors.initials: MR
authors.lastname: Masruha
mesh_terms: D027682:Cation Transport Proteins / Q000235:genetics; D002648:Child; D005260:Female; D020233:Gait Disorders, Neurologic / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D020149:Manganese Poisoning / Q000150:complications / Q000235:genetics / Q000473:pathology; D059906:Neuroimaging; D000075703:Zinc Transporter 8
chemical_list: D027682:Cation Transport Proteins; C492522:SLC30A8 protein, human; D000075703:Zinc Transporter 8
keywords: Dystonia; Hypermanganesemia; Manganese; Manganism inherited; Movement disorders