Manganese transport disorder: novel SLC30A10 mutations and early phenotypes

Movement Disorders : Official Journal of the Movement Disorder Society
Marialuisa QuadriVincenzo Bonifati

Abstract

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 for this study consisted of clinical examination, neuroimaging studies (MRI), serum dosages, and SLC30A10 genetic analysis. 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. 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 So...Continue Reading

References

Oct 21, 2000·Archives of Disease in Childhood·S M GospeR A Kreutzer
Apr 9, 2008·Journal of Inherited Metabolic Disease·Karin TuschlPeter T Clayton
May 21, 2011·Journal of Child Neurology·Paula BrnaVictoria Price
Feb 22, 2012·American Journal of Human Genetics·Marialuisa QuadriVincenzo Bonifati
Aug 29, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Maria StamelouPeter T Clayton
Apr 18, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Cathérine C S DelnoozBart P C van de Warrenburg
Mar 7, 2014·Annals of Neurology·Mirna LechpammerSidney M Gospe
Aug 20, 2014·Frontiers in Genetics·Pan ChenMichael Aschner

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Citations

Dec 3, 2015·Toxicological Sciences : an Official Journal of the Society of Toxicology·Karin WahlbergKarin Broberg
Jan 15, 2016·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Madhu NagappaArun B Taly
Feb 14, 2018·Proceedings of the National Academy of Sciences of the United States of America·Supak JenkitkasemwongMitchell D Knutson
Jul 11, 2018·Metallomics : Integrated Biometal Science·Charles E Zogzas, Somshuvra Mukhopadhyay
May 25, 2018·American Journal of Physiology. Gastrointestinal and Liver Physiology·Khristy J ThompsonMarianne Wessling-Resnick
Dec 18, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·Darius Ebrahimi-FakhariAlexander Münchau
Feb 1, 2018·Orphanet Journal of Rare Diseases·L Marti-SanchezPérez Dueñas
Feb 14, 2019·The Journal of Biological Chemistry·Moshe LevyIsrael Sekler
Mar 20, 2020·The Journal of Biological Chemistry·Rekha C BalachandranAaron B Bowman
Jun 11, 2020·Current Opinion in Neurology·Annu Aggarwal, Mohit Bhatt
Sep 22, 2019·Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine·Khristy J Thompson, Marianne Wessling-Resnick
Feb 20, 2020·Movement Disorders Clinical Practice·Serena GalosiVincenzo Leuzzi
May 13, 2020·International Journal of Molecular Sciences·James W W WinslowNingning Zhao
Jul 14, 2020·Current Opinion in Neurology·Annu Aggarwal, Mohit Bhatt
May 16, 2019·Current Neurology and Neuroscience Reports·S Anagianni, K Tuschl
Jul 12, 2020·Journal of Alzheimer's Disease : JAD·Kelly M BakulskiSung Kyun Park
Jun 18, 2017·Metallomics : Integrated Biometal Science·Qi YeJonghan Kim
Apr 6, 2021·Journal of Movement Disorders·Dinkar KulshreshthaMandar Jog
Aug 8, 2021·International Journal of Molecular Sciences·Beata TarnackaMaria Maślińska

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