Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes

Movement Disorders

Volumn 30, Issue 7, 2015, Pages 996-1001

  Quadri, Marialuisa ^a   Kamate, Mahesh ^b   Sharma, Suvasini ^c   Olgiati, Simone ^a   Graafland, Josja ^a   Breedveld, Guido J ^a   Kori, Indu ^b   Hattiholi, Virupaxi ^d   Jain, Puneet ^c   Aneja, Satinder ^c   Kumar, Atin ^e   Gulati, Parveen ^f   Goel, Medha ^g   Talukdar, Bibek ^g   Bonifati, Vincenzo ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b KLE UNIVERSITY   (India)

^c KALAWATI SARAN CHILDREN'S HOSPITAL   (India)

^d JAWAHARLAL NEHRU MEDICAL COLLEGE   (India)

^e ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^f Department of Radiology   (India)

^g Chacha Nehru Bal Chikitsalaya   (India)

Author keywords

Dystonia; Genetics; Manganese; Metabolic inherited disease; SLC30A10

Indexed keywords

MANGANESE; PROTEIN; SLC30A10 PROTEIN; UNCLASSIFIED DRUG; CATION TRANSPORT PROTEIN; SLC30A8 PROTEIN, HUMAN;

ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE COURSE; DYSTONIC DISORDER; EXON; FEMALE; GAIT DISORDER; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; INDIAN; MALE; MANGANESE BLOOD LEVEL; MANGANESE TRANSPORT DISORDER; MUSCLE HYPOTONIA; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SPEECH DISORDER; STOP CODON; ADOLESCENT; BLOOD; CASE REPORT; COMPLICATION; CONSANGUINITY; DISORDERS OF METAL METABOLISM; DYSTONIA; GENETICS; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

ADOLESCENT; CATION TRANSPORT PROTEINS; CHILD, PRESCHOOL; CONSANGUINITY; DYSTONIA; FEMALE; HUMANS; MALE; MANGANESE; METAL METABOLISM, INBORN ERRORS; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84931831573     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26202     Document Type: Article

References (13)

1. Gospe SM, Caruso RD, Clegg MS, et al. Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. Arch Dis Child 2000;83:439-442.
2. Tuschl K, Mills PB, Parsons H, et al. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia-a new metabolic disorder. J Inherit Metab Dis 2008;31:151-163.
3. Brna P, Gordon K, Dooley JM, Price V. Manganese toxicity in a child with iron deficiency and polycythemia. J Child Neurol 2011;26:891-894.
4. Tuschl K, Clayton PT, Gospe SM, Jr., et al. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet 2012;90:457-466.
5. Quadri M, Federico A, Zhao T, et al. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet 2012;90:467-477.
6. Lechpammer M, Clegg MS, Muzar Z, Huebner PA, Jin LW, Gospe SM, Jr. Pathology of inherited manganese transporter deficiency. Ann Neurol 2014;75:608-612.
7. Tuschl K, Clayton PT, Gospe SM, Mills PB. Dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle, 2012 Aug 30 [updated 2014 Sep 11].
8. Ebert BL, Bunn HF. Regulation of the erythropoietin gene. Blood 1999;94:1864-1877.
9. Delnooz CC, Wevers RA, Quadri M, et al. Phenotypic variability in a dystonia family with mutations in the manganese transporter gene. Mov Disord 2013;28:685-686.
10. Roth JA. Homeostatic and toxic mechanisms regulating manganese uptake, retention, and elimination. Biol Res 2006;39:45-57.
11. Chen P, Parmalee N, Aschner M. Genetic factors and manganese-induced neurotoxicity. Front Genet 2014;5:265.
12. Stamelou M, Tuschl K, Chong WK, et al. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord 2012;27:1317-1322.
13. Di Toro Mammarella L, Mignarri A, Battisti C, et al. Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations. J Neurol 2014;261:227-228.