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Wilson’s Disease

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Movement Disorder Emergencies

Part of the book series: Current Clinical Neurology ((CCNEU))

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Abstract

Wilson’s disease is a rare disorder with protean clinical manifestations. The diagnosis of Wilson’s disease is an emergency, because of the serious sequelae of a missed or delayed diagnosis, and because of the risk of permanent neurologic harm if the patient is mismanaged. With adequate clinical suspicion and careful application of anticopper strategies, most patients with Wilson’s disease can expect to lead a normal life.

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References

  1. Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295–509.

    Article  Google Scholar 

  2. Kayser B. Ueber einen Fall von angeborener grunlicher Vertarbung der korne. Klin Mbl Augenheilk. 1902;40:22–5.

    Google Scholar 

  3. Fleischer B. Zwei weitere Falle von grunliche Verfarbung der Korne. Klin Mbl Augenheilk. 1903;41:489–91.

    Google Scholar 

  4. Glazebrook AJ. Wilson’s disease. Edinburgh Med J. 1945;52:83–7.

    Google Scholar 

  5. Cumings JN. The copper and iron content of brain and liver in the normal and in hepato-­lenticular degeneration. Brain. 1948;71:410–5.

    Article  PubMed  CAS  Google Scholar 

  6. Mandelbrote BM, Stanier MW, Thompson RHS, Thruston MN. Studies on copper metabolism in demyelinating disease of the central nervous system. Brain. 1948;71:212–28.

    Article  PubMed  CAS  Google Scholar 

  7. Ravestyn AM. Metabolism of copper in man. Acta Med Scand. 1944;118:163–96.

    Article  Google Scholar 

  8. Frommer DJ. Defective biliary excretion of copper in Wilson’s disease. Gut. 1974;15:125–9.

    Article  PubMed  CAS  Google Scholar 

  9. Bearn AG, Kunkel HG. Biochemical abnormalities in Wilson’s disease. J Clin Invest. 1952;31:616.

    Google Scholar 

  10. Scheinberg IH, Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticular ­degeneration (Wilson’s disease). Science. 1952;116:484–5.

    Article  PubMed  CAS  Google Scholar 

  11. Cummings JN. The effects of BAL in hepatolenticular degeneration. Brain. 1951;74:10–22.

    Article  Google Scholar 

  12. Walshe JM. Penicillamine: a new oral therapy for Wilson’s disease. Am J Med. 1956;21:487–95.

    Article  PubMed  CAS  Google Scholar 

  13. Walshe JM. Treatment of Wilson’s disease with trientine (triethylene tetramine) dihydrochloride. Lancet. 1982;1:643–7.

    Article  PubMed  CAS  Google Scholar 

  14. Schouwink G. De hepatocerebrale degeratie, me een onderzoek naar de zinktowisseling. MD Thesis, University of Amsterdam; 1961.

    Google Scholar 

  15. Brewer GJ, Hill GM, Prasad AS, Cossack ZT, Rabbam P. Oral zinc therapy for Wilson’s disease. Ann Intern Med. 1983;99:314–20.

    PubMed  CAS  Google Scholar 

  16. Brewer GJ, Dick RD, Johnson VD, Brunberg JA, Klum KJ, Fink JK. The treatment of Wilson’s disease with zinc XV: long-term follow-up studies. J Lab Clin Med. 1998;132:264–78.

    Article  PubMed  CAS  Google Scholar 

  17. Brewer GJ, Dick RD, Yuzbasiyan-Gurkan V, Tanakow R, Young AB, Kluin KJ. Initial therapy of patients with Wilson’s disease with tetrathiomolybdate. Arch Neurol. 1991;48:42–7.

    Article  PubMed  CAS  Google Scholar 

  18. Brewer GJ, Hedera P, Kluin KJ, et al. Treatment of Wilson’s disease with tetrathiomolybdate III: initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy. Arch Neurol. 2003;60:379–85.

    Article  PubMed  Google Scholar 

  19. Bearn AG. A genetical analysis of thirty families with Wilson’s disease (hepatolenticular degeneration). Ann Hum Genet. 1960;24:33–43.

    Article  PubMed  CAS  Google Scholar 

  20. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menke’s gene. Nat Genet. 1993;5:327–37.

    Article  PubMed  CAS  Google Scholar 

  21. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993;5:44–50.

    Article  Google Scholar 

  22. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophy Res Commun. 1993;197:271–7.

    Article  CAS  Google Scholar 

  23. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATP-ase. Nat Genet. 1993;3:7–13.

    Article  PubMed  CAS  Google Scholar 

  24. Chelly J, Turner Z, Tonnesen T, et al. Isolation of a candidate gene for Menkes disease that encodes a potentially heavy metal binding protein. Nat Genet. 1993;3:14–9.

    Article  PubMed  CAS  Google Scholar 

  25. Mercer JF, Livingston J, Hall B, et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet. 1993;3:20–5.

    Article  PubMed  CAS  Google Scholar 

  26. Cox DW, Roberts EA. Wilson disease. GeneClinics, University of Washington, Seattle. http://www.geneclinics.org/profiles/Wilson/details.html.

  27. Brewer GJ, Yuzbasiyan-Gurkan V. Wilson disease. Medicine. 1992;71:139–64.

    Article  PubMed  CAS  Google Scholar 

  28. Scheinberg IH, Sternlieb I. Wilson’s disease. In: Smith Jr LH, editor. Major problems in internal medicine, vol. 23. Philadelphia: W.B. Saunders; 1984.

    Google Scholar 

  29. Brewer GJ. Recognition, diagnosis and management of Wilson’s disease. Proc Soc Exp Biol Med. 2000;223:39–49.

    Article  PubMed  CAS  Google Scholar 

  30. Brewer GJ. Wilson’s disease: a clinician’s guide to recognition, diagnosis, and management. Boston: Kluwer; 2001.

    Google Scholar 

  31. Brewer GJ. Wilson’s disease. In: Kasper DL, Braunwald E, Fuci AS, et al., editors. Harrison’s principles of internal medicine. New York: McGraw-Hill; 2004.

    Google Scholar 

  32. Brewer GJ, Terry CA, Aisen AM, Hill GM. Worsening of neurologic syndrome in patients with Wilson’s disease with initial penicillamine therapy. Arch Neurol. 1987;44:490–3.

    Article  PubMed  CAS  Google Scholar 

  33. Brewer GJ, Askari F, Lorinez MT, et al. Treatment of Wilson’s disease with tetrathiomolybdate: IV Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson’s disease. Arch Neurol. 2006;63:521–7.

    Article  PubMed  Google Scholar 

  34. Yuzbastyan-Gurkan V, Grider A, Nostrant T, Cousins RJ, Brewer GJ. The treatment of Wilson’s disease with zinc: X Intestinal metallothionein induction. J Lab Clin Med. 1992;120:380–6.

    Google Scholar 

  35. Askari FK, Greenson J, Dick RD, Johnson VD, Brewer GJ. Treatment of Wilson’s disease with zinc. XVIII Initial treatment of the hepatic decompensation presentation with trientine and zinc. J Lab Clin Med. 2003;142:385–90.

    Article  PubMed  CAS  Google Scholar 

  36. Brewer GJ, Dick RD, Johnson V, et al. Treatment of Wilson’s disease with tetrathiomolybdate; I. Initial therapy in 17 neurologically affected patients. Arch Neurol. 1994;51:545–54.

    Article  PubMed  CAS  Google Scholar 

  37. Brewer GJ, Johnson V, Dick RD, Kluin KJ, Fink JK, Brunberg JA. Treatment of Wilson’s disease with ammonium tetrathiomolybdate; II. Initial therapy in 33 neurologically affected patients and follow-up on zinc therapy. Arch Neurol. 1996;53:1017–25.

    Article  PubMed  CAS  Google Scholar 

  38. Brewer GJ, Askam F, Dick RB, et al. Treatment of Wilson’s disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine. Transl Res. 2009;154:70–7.

    Article  PubMed  CAS  Google Scholar 

  39. Fink JK, Hedera P, Brewer GJ. Hepatolenticular degeneration (Wilson’s disease). Neurologist. 1999;5:171–85.

    Article  Google Scholar 

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Correspondence to George J. Brewer .

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Brewer, G.J. (2013). Wilson’s Disease. In: Frucht, S. (eds) Movement Disorder Emergencies. Current Clinical Neurology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-835-5_23

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  • DOI: https://doi.org/10.1007/978-1-60761-835-5_23

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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-60761-834-8

  • Online ISBN: 978-1-60761-835-5

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