title: Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
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.
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Marialuisa
authors.initials: M
authors.lastname: Quadri
authors.affiliation: Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum, India.
authors.forename: Mahesh
authors.initials: M
authors.lastname: Kamate
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Simone
authors.initials: S
authors.lastname: Olgiati
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Josja
authors.initials: J
authors.lastname: Graafland
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Guido J
authors.initials: GJ
authors.lastname: Breedveld
authors.affiliation: Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum, India.
authors.forename: Indu
authors.initials: I
authors.lastname: Kori
authors.affiliation: Department of Radiology, KLE University's Jawaharlal Nehru Medical College, Belgaum, India.
authors.forename: Virupaxi
authors.initials: V
authors.lastname: Hattiholi
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Puneet
authors.initials: P
authors.lastname: Jain
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
authors.affiliation: Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Atin
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Dr. Gulati Imaging Institute, New Delhi, India.
authors.forename: Parveen
authors.initials: P
authors.lastname: Gulati
authors.affiliation: Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, New Delhi, India.
authors.forename: Medha
authors.initials: M
authors.lastname: Goel
authors.affiliation: Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, New Delhi, India.
authors.forename: Bibek
authors.initials: B
authors.lastname: Talukdar
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
mesh_terms: D000293:Adolescent; D027682:Cation Transport Proteins / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D004421:Dystonia / Q000097:blood / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D008345:Manganese / Q000378:metabolism*; D008664:Metal Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D000075703:Zinc Transporter 8
chemical_list: D027682:Cation Transport Proteins; C492522:SLC30A8 protein, human; D000075703:Zinc Transporter 8; D008345:Manganese
keywords: SLC30A10; dystonia; genetics; manganese; metabolic inherited disease