Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: A new treatable disorder

Movement Disorders

Volumn 27, Issue 10, 2012, Pages 1317-1322

  Stamelou, Maria ^a   Tuschl, Karin ^b   Chong, W K ^c   Burroughs, Andrew K ^d   Mills, Philippa B ^b   Bhatia, Kailash P ^a   Clayton, Peter T ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d WELLINGTON HOSPITAL   (United Kingdom)

Author keywords

Cirrhosis; Dystonia; Hypermanganesemia; Polycythemia; SLC30A10

Indexed keywords

ALPHA TOCOPHEROL; EDETATE CALCIUM DISODIUM; FERROUS FUMARATE; LEVODOPA; MANGANESE; PENICILLAMINE;

ADD ON THERAPY; ADULT; ARTICLE; BASAL GANGLION; BIOACCUMULATION; BLOOD LEVEL; BRADYKINESIA; CASE REPORT; CEREBELLUM; CHELATION THERAPY; CLINICAL FEATURE; DYSTONIA; FEMALE; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERBILIRUBINEMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SLC30A10 GENE; SPASTICITY; TREATMENT RESPONSE; WALKING DIFFICULTY; WILSON DISEASE;

BRAIN; CATION TRANSPORT PROTEINS; CHELATING AGENTS; DYSTONIA; FEMALE; HUMANS; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MANGANESE; MUTATION; PENTETIC ACID; YOUNG ADULT;

EID: 84866288249     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25138     Document Type: Article

References (48)

1. Tuschl K, Clayton PT, Gospe SM, Jr., et al. Syndrome of hepatic cirrhosis, dystonia, polycythemia and hypermanganesemia caused by mutation in SLC30A10, a manganese transporter in man. AJHG 2012; 90: 457-466.
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. Quadri M, Federico A, Zhao T, et al. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. AJHG 2012; 90: 467-477.
4. Ebert BL, Bunn HF. Regulation of the erythropoietin gene. Blood 1999; 94: 1864-1877.
5. Yin Z, Jiang H, Lee ES, et al. Ferroportin is a manganese-responsive protein that decreases manganese cytotoxicity and accumulation. J Neurochem 2010; 112: 1190-1198.
6. Roth JA, Garrick MD. Iron interactions and other biological reactions mediating the physiological and toxic actions of manganese. Biochem Pharmacol 2003; 66: 1-13.
7. Crooks DR, Ghosh MC, Braun-Sommargren M, Rouault TA, Smith DR. Manganese targets m-aconitase and activates iron regulatory protein 2 in AF5 GABAergic cells. J Neurosci Res 2007; 85: 1797-1809.
8. Fitsanakis VA, Zhang N, Garcia S, Aschner M. Manganese (Mn) and iron (Fe): interdependency of transport and regulation. Neurotox Res 2010; 18: 124-131.
9. Sedel F, Saudubray JM, Roze E, Agid Y, Vidailhet M. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis 2008; 31: 308-318.
10. Gouider-Khouja N. Wilson's disease. Parkinsonism Relat Disord 2009;(15 Suppl 3): S126-S129.
11. Madsen E, Gitlin JD. Copper and iron disorders of the brain. Annu Rev Neurosci 2007; 30: 317-337.
12. Schneider SA, Hardy J, Bhatia KP. Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? J Neurol Neurosurg Psychiatry 2009; 80: 589-590.
13. Manyam BV. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord 2005; 11: 73-80.
14. Kim TJ, Kim IO, Kim WS, et al. MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. AJNR Am J Neuroradiol 2006; 27: 1373-1378.
15. Hegde AN, Mohan S, Lath N, Lim CC. Differential diagnosis for bilateral abnormalities of the basal ganglia and thalamus. Radiographics 2011; 31: 5-30.
16. Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012; 27: 42-53.
17. Zorzi G, Zibordi F, Chiapparini L, et al. Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial. Mov Disord 2011; 26: 1756-1759.
18. Ferrara J, Jankovic J. Acquired hepatocerebral degeneration. J Neurol 2009; 256: 320-332.
19. Fernandez-Rodriguez R, Contreras A, De Villoria JG, Grandas F. Acquired hepatocerebral degeneration: clinical characteristics and MRI findings. Eur J Neurol 2010; 17: 1463-1470.
20. Furbee B. Welding and parkinsonism. Neurol Clin 2011; 29: 623-640.
21. Hardy G. Manganese in parenteral nutrition: who, when, and why should we supplement? Gastroenterology 2009; 137(5 Suppl): S29-35.
22. Sikk K, Haldre S, Aquilonius SM, Taba P. Manganese-induced parkinsonism due to ephedrone abuse. Parkinsons Dis 2011; 2011: 865319.
23. Huang CC, Weng YH, Lu CS, Chu NS, Yen TC. Dopamine transporter binding in chronic manganese intoxication. J Neurol 2003; 250: 1335-1339.
24. Kim Y. Neuroimaging in manganism. Neurotoxicology 2006; 27: 369-372.
25. Selikhova M, Fedoryshyn L, Matviyenko Y, et al. Parkinsonism and dystonia caused by the illicit use of ephedrone-a longitudinal study. Mov Disord 2008; 23: 2224-2231.
26. Burkhard PR, Delavelle J, Du Pasquier R, Spahr L. Chronic parkinsonism associated with cirrhosis: a distinct subset of acquired hepatocerebral degeneration. Arch Neurol 2003; 60: 521-528.
27. Spahr L, Butterworth RF, Fontaine S, et al. Increased blood manganese in cirrhotic patients: relationship to pallidal magnetic resonance signal hyperintensity and neurological symptoms. Hepatology 1996; 24: 1116-1120.
28. Olanow CW, Good PF, Shinotoh H, et al. Manganese intoxication in the rhesus monkey: a clinical, imaging, pathologic, and biochemical study. Neurology 1996; 46: 492-498.
29. Calne DB, Chu NS, Huang CC, Lu CS, Olanow W. Manganism and idiopathic parkinsonism: similarities and differences. Neurology 1994; 44: 1583-1586.
30. Discalzi G, Pira E, Herrero Hernandez E, Valentini C, Turbiglio M, Meliga F. Occupational Mn parkinsonism: magnetic resonance imaging and clinical patterns following CaNa2-EDTA chelation. Neurotoxicology 2000; 21: 863-866.
31. Herrero Hernandez E, Discalzi G, Valentini C, et al. Follow-up of patients affected by manganese-induced Parkinsonism after treatment with CaNa2EDTA. Neurotoxicology 2006; 27: 333-339.
32. Angle CR. Dimercaptosuccinic acid (DMSA): negligible effect on manganese in urine and blood. Occup Environ Med 1995; 52: 846.
33. Blanusa M, Varnai VM, Piasek M, Kostial K. Chelators as antidotes of metal toxicity: therapeutic and experimental aspects. Curr Med Chem 2005; 12: 2771-2794.
34. Jiang YM, Mo XA, Du FQ, et al. Effective treatment of manganese-induced occupational Parkinsonism with p-aminosalicylic acid: a case of 17-year follow-up study. J Occup Environ Med 2006; 48: 644-649.
35. Gospe SM, Jr., Caruso RD, Clegg MS, et al. Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. Arch Dis Child 2000; 83: 439-442.
36. Park HK, Kim SM, Choi CG, Lee MC, Chung SJ. Effect of trientine on manganese intoxication in a patient with acquired hepatocerebral degeneration. Mov Disord 2008; 23: 768-770.
37. Huang CC. Parkinsonism induced by chronic manganese intoxication--an experience in Taiwan. Chang Gung Med J 2007; 30: 385-395.
38. Olanow CW. Manganese-induced parkinsonism and Parkinson's disease. Ann N Y Acad Sci 2004; 1012: 209-223.
39. Butterworth RF. Metal toxicity, liver disease and neurodegeneration. Neurotox Res 2010; 18: 100-105.
40. Colosimo C, Guidi M. Parkinsonism due to ephedrone neurotoxicity: a case report. Eur J Neurol 2009; 16: e114-115.
41. Sanotsky Y, Lesyk R, Fedoryshyn L, Komnatska I, Matviyenko Y, Fahn S. Manganic encephalopathy due to "ephedrone" abuse. Mov Disord 2007; 22: 1337-1343.
42. Fitzgerald K, Mikalunas V, Rubin H, McCarthey R, Vanagunas A, Craig RM. Hypermanganesemia in patients receiving total parenteral nutrition. JPEN J Parenter Enteral Nutr 1999; 23: 333-336.
43. Hardy IJ, Gillanders L, Hardy G. Is manganese an essential supplement for parenteral nutrition? Curr Opin Clin Nutr Metab Care 2008; 11: 289-296.
44. Reynolds AP, Kiely E, Meadows N. Manganese in long term paediatric parenteral nutrition. Arch Dis Child 1994; 71: 527-528.
45. Fell JM, Reynolds AP, Meadows N, et al. Manganese toxicity in children receiving long-term parenteral nutrition. Lancet 1996; 347: 1218-1221.
46. Nagatomo S, Umehara F, Hanada K, et al. Manganese intoxication during total parenteral nutrition: report of two cases and review of the literature. J Neurol Sci 1999; 162: 102-105.
47. 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.
48. Ladurner G, Kalvach P, Moessler H. Neuroprotective treatment with cerebrolysin in patients with acute stroke: a randomised controlled trial. J Neural Transm 2005; 112: 415-428.