Manganese Transport Disorder: Novel SLC30A10 Mutations and Early Phenotypes

Marialuisa Quadri, M Kamate, S Sharma, Simone Olgiati, Josja Graafland, Guido Breedveld, I Kori, V Hattiholi, P Jain, S Aneja, A Kumar, P Gulati, M Goel, B Talukdar, Vincenzo Bonifati

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Background: SLC30A10 mutations cause an autosornal recessive disorder, characterized by hyperrnanganesaennia, polycythennia, 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, polycythennia, variable degree of liver disease, and marked brain MRI Ti 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. (C) 2015 International Parkinson and Movement Disorder Society
Original languageUndefined/Unknown
Pages (from-to)996-1001
Number of pages6
JournalMovement Disorders
Issue number7
Publication statusPublished - 2015

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