Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
Mov Disord
; 30(7): 996-1001, 2015 Jun.
Article
em En
| MEDLINE
| ID: mdl-25778823
ABSTRACT
BACKGROUND:
SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early-onset dystonia, paraparesis, or late-onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far.METHODS:
Methods for this study consisted of clinical examination, neuroimaging studies (MRI), serum dosages, and SLC30A10 genetic analysis.RESULTS:
We describe early disease manifestations (including videos) in 5 previously unreported Indian children, carrying novel homozygous SLC30A10 mutations. Gait and speech disturbances, falls, dystonias, and central hypotonia were the presenting neurological features, starting within the first 5 years of life. All children also had severe hypermanganesemia, polycythemia, variable degree of liver disease, and marked brain MRI T1 hyperintensities.CONCLUSIONS:
Our findings expand the mutational and clinical spectra of this recently recognized disorder. An early diagnosis is warranted, because treatment with manganese-chelating agents, iron supplementation, or their combination might improve symptoms and prevent progression of this otherwise potentially fatal disease. © 2015 International Parkinson and Movement Disorder Society.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte de Cátions
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Distonia
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Manganês
/
Erros Inatos do Metabolismo dos Metais
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Adolescent
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Mov Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Holanda