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J Neurol Sci. 2014 Jun 15;341(1-2):150-2. doi: 10.1016/j.jns.2014.03.057. Epub 2014 Apr 4.

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

Author information

1
Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: marcelavelino@yahoo.com.br.
2
Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
3
Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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.

KEYWORDS:

Dystonia; Hypermanganesemia; Manganese; Manganism inherited; Movement disorders

PMID:
24746291
DOI:
10.1016/j.jns.2014.03.057
[Indexed for MEDLINE]

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