Wilson’s disease

Neurogenetics: Scientific and Clinical Advances

Volumn , Issue , 2005, Pages 383-401

  Brewer, George J ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

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EID: 85056922523     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (83)

1. Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912; 34:295-509.
2. Kayser B. Ueber einen Fall von angeborener grü nlicher Verfärbung der kornea. Klin Mbl Augenheilk 1902; 40:22-25.
3. Fleischer B. Zwei weitere Fä lle von grünliche Verfärbung der Kornea. Klin Mbl Augenheilk 1903; 41:489-491.
4. Glazebrook AJ. Wilson’s disease. Edinburgh Med J 1945; 52:83-87.
5. Cumings JN. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. Brain 1948; 71:410-415.
6. Ravestyn AH. Metabolism of copper in man. Acta Med Scand 1944; 118: 163-196.
7. Frommer DJ. Defective biliary excretion of copper in Wilson’s disease. Gut 1974; 15:125-129.
8. Scheinberg IH, Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson’s disease). Science 1952; 116:484-485.
9. Bearn AG, Kunkel HG. Biochemical abnormalities in Wilson’s disease. J Clin Invest 1952; 31:616.
10. Bearn AG. A genetical analysis of thirty families with Wilson’s disease (hepatolenticular degeneration). Ann Hum Genet 1960; 24:33-43.
11. Walshe JM. Penicillamine. A new oral therapy for Wilson’s disease. Am J Med 1956; 21:487-495.
12. Walshe JM. Treatment of Wilson’s disease with trientine (triethylene tetramine) dihydrochloride. Lancet 1982; 1:643-647.
13. Schouwink G. De hepatocerebrale degeneratie, me een onderzoek naar de zinktofwisseling. MD Thesis, University of Amsterdam 1961.
14. Hoogenraad TU, van Hattum J, van den Hamer CJA. Management of Wilson’s disease with zinc sulphate. Experience in a series of 27 patients. J Neurol Sci 1987; 77:137-146.
15. Brewer GJ, Hill GM, Prasad AS, Cossack ZT, Rabbani P. Oral zinc therapy for Wilson’s disease. Ann Intern Med 1983; 99:314-320.
16. Brewer GJ, Dick RD, Johnson VD, Brunberg JA, Kluin KL, Fink JK. Treatment of Wilson’s disease with zinc: XV Long-term follow-up studies. J Lab Clin Med 1998; 132:264-278.
17. Yuzbasiyan-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; 120:380-386.
18. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson’s disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993; 5(4):327-337.
19. Tanzi RE, Petrukhin K, et al. The Wilson’s disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5(4): 44-50.
20. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson’s disease. Biochem Biophys Res Commun 1993; 197:271-277.
21. Cox DW, Roberts EA. Wilson’s disease. GeneClinics, University of Washington, Seattle. Online. Available: http://www.geneclinics.org/profiles/wilson/details. html.
22. Brewer GJ, Yuzbasiyan-Gurkan V. Wilson’s disease. Medicine 1992; 71:139-164.
23. Scheinberg IH, Sternlieb I. Wilson’s disease. In: Smith LH Jr, ed. Major Problems in Internal Medicine. Philadelphia: W.B. Saunders, 1984:23.
24. Hoogenraad TU. Wilson’s disease. In: Warlow CP, Van Gijn J, eds. Major Problems in Neurology. London: W.B. Saunders, 1996:30.
25. Schilsky ML. Wilson’s disease: Genetic basis of copper toxicity and natural history. Semin Liver Dis 1996; 16:83-95.
26. Brewer GJ. Wilson’s disease. Curr Treat Options Neurol 2000; 2(3):193-203.
27. Brewer GJ, Fink JK, Hedera P. Diagnosis and treatment of Wilson’s disease. Semin Neurol 1999; 19(3):261-270.
28. Brewer GJ. Recognition, diagnosis and management of Wilson’s disease. Exp Biol Med 2000; 223(1):39-49.
29. Brewer GJ. Raulin Award Lecture: Wilson’s disease therapy with zinc and tetrathiomolybdate. J Trace Elem Exp Med 2000; 3:51-61.
30. Fink JK, Hedera P, Brewer GJ. Hepatolenticular degeneration (Wilson’s disease). Neurologist 1999; 5:171-185.
31. Steindl P, Ferenci P, Dienes HP, Grimm G, Pabinger I, Madl C, Maier-Dobersberger T, Herneth A, Dragosics B, Meryn S, Knoflach P, Granditsch G, Gangl A. Wilson’s disease in patients presenting with liver disease: A diagnostic challenge. Gastroenterology 1997; 113:212-218.
32. Brewer GJ. Wilson’s Disease: A Clinician’s Guide to Recognition, Diagnosis, and Management. Boston: Kluwer, 2001.
33. Brewer GJ. Wilson’s Disease for the Patient and Family: A Patient’s Guide to Wilson’s Disease and Frequently Asked Questions about Copper. Philadelphia: Xlibris, 2001.
34. Deiss A, Lee GR, Cartwright GE. Hemolytic anemia in Wilson’s disease. Ann Intern Med 1970; 73:413-418.
35. Ishmael J, Gopinath C, Howell JMC. Experimental chronic copper toxicity in sheep. Biochemical and haematological studies during the development of lesions in the liver. Res Vet Sci 1972; 13:22-29.
36. Metz EN. Mechanism of hemolysis by excess copper (abstract). Clin Res 1969; 7:32.
37. Hill GM, Brewer GJ, Prasad AS, Hydrick CR, Hartmann DE. Treatment of Wilson’s disease with zinc: I. Oral zinc therapy regimens. Hepatology 1987; 7:522-528.
38. Holden JM, Wolf WR, Mertz W. Zinc and copper in self selected diets. J Am Diet Assoc 1979; 75:23-28.
39. Klevay LM, Reck SJ, Barcome DP. Evidence of dietary copper and zinc deficiencies. JAMA 1979; 241:1916-1918.
40. Reiser S, Smith JC Jr, Mertz W, Holbrook JT, Scholfield DJ, Powell AS, Canfield WK, Canary JJ. Indices of copper status in humans consuming a typical American diet containing either fructose or starch. Am J Clin Nutr 1985; 42:242-251.
41. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson’s disease gene: spectrum of mutations and their consequences. Nat Genet 1999; 9:210-217.
42. Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mauchi H. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson’s disease. Hum Mutat 2000; 15:454-462.
43. Srikumar TS, Johansson GK, Ockerman P-A, Gustafsson J-A, Akesson B. Trace element status in healthy subjects switching from a mixed to a lactovegetarian diet for 12 mo. Am J Clin Nutr 1992; 55:1-6.
44. Brewer GJ, Yuzbasiyan-Gurkan V, Dick R, Wang Y, Johnson V. Does a vegetarian diet control Wilson’s disease? JACN 1993; 2:527-530.
45. Olivarez L, Caggana M, Pass KA, Ferguson P, Brewer GJ. Estimate of the frequency of Wilson’s disease in the U.S. Caucasian population: A mutation analysis approach. Ann Hum Genet 2001; 64:459-463.
46. Dastur DK, Manghani DK, Wadia NH. Wilson’s disease in India I. Geographic, genetic, and clinical aspects in 16 families. Neurology 1968; 18: 21-31.
47. Bhave S, Bavdekar A, Pandit A. Changing pattern of chronic liver disease (CLD) in India. Indian J Pediatr 1994; 61:675-682.
48. Bhave SA, Purohit GM, Pradhan AV, Pandit AN. Hepatic presentation of Wilson’s disease. Indian Pediatr 1987; 24:385-393.
49. Brewer GJ. Behavioral abnormalities in Wilson’s disease. In: Weiner WJ, Lang AE, Anderson KE, eds. Behavioral Neurology of Movement Disorders, 2nd ed. Philadelphia: Lippincott Williams & Wilkins 2005; 262-274.
50. Akil M, Brewer GJ. Psychiatric and behavioral abnormalities in Wilson’s disease. In:WeinerWJ, Lang AE, eds.Advances in Neurology. Vol. 65. Behavioral Neurology of Movement Disorders. New York: Raven Press, 1995:171-178.
51. Dening TR, Berrios GE. Wilson’s disease: Psychiatric symptoms in 195 cases. Arch Gen Psychiatry 1989; 46:1126-1134.
52. Rathbun JK. Neuropsychological aspects of Wilson’s disease. Int J Neurosci 1996; 85:221-229.
53. Jackson GH, Meyer A, Lippmann S. Wilson’s disease: Psychiatric manifestations may be the clinical presentation. Postgrad Med 1994; 95:135-138.
54. Scheinberg IH, Sternlieb I, Richman J. Psychiatric manifestations in patients with Wilson’s disease. Birth Defects 1968; 4:85-99.
55. Knehr CA, Bearn AG. Psychological impairment in Wilson’s disease. J Nerv Ment Dis 1956; 124:251-255.
56. Dening TR. The neuropsychiatry of Wilson’s disease: A review. Int J Psychiatry Med 1991; 21:135-148.
57. McDonald LV, Lake CR. Psychosis in an adolescent patient with Wilson’s disease: Effects of chelation therapy. Psychosom Med 1995; 57:202-204.
58. Oder W, Grimm G, et al. Neurological and neuropsychiatric spectrum of Wilson’s disease: a prospective study of 45 cases. J Neurol 1991; 238:281-287.
59. Goldstein NP, Ewert JC, et al. Psychiatric aspects of Wilson’s disease (hepatolenticular degeneration): results of psychometric tests during long-term therapy. Am J Psychiatry 1968; 124:11.
60. Lauterbach EC, Cummings JL, et al. Neuropsychiatric correlates and treatment of lenticulostriatal diseases: A review of the literature and overview of research opportunities in Huntington’s, Wilson’s, and Fahr’s diseases. A report of the ANPA Committee on Research. J Neuropsychiatry 1998; 10:249-266.
61. Starosta-Rubinstein S, Young AB, Kluin K, Hill GM, Aisen AM, Gabrielsen T, Brewer GJ. Clinical assessment of 31 patients with Wilson’s disease. Correlations with structural changes on MRI. Arch Neurol 1987; 44:365-370.
62. Bhattacharya K, Velickovic M, Schilsky M, Kaufmann H. Autonomic cardiovascular reflexes in Wilson’s disease. Clin Auton Res 2002; 12(3):190-192.
63. Meenakshi-Sundaram S, Taly AB, Kamath V, Arunodaya GR, Rao S, Swamy HS. Autonomic dysfunction in Wilson’s disease-a clinical and electrophysiological study. Clin Auton Res 2002; 12(3):185-189.
64. Brewer GJ. Editorial: Autonomic dysfunction in Wilson’s disease. Clin Auton Res 2002; 12(3):139-140.
65. Azevedo EM, Scaff M, Barbosa ER, Gouveia-Neto AE, Canelas HM. Heart involvement in hepatolenticular degeneration. Acta Neurol Scand 1978; 58: 296-303.
66. Kuan P. Fatal cardiac complications of Wilson’s disease. Am Heart J 1982; 104:314-316.
67. Factor SM, Cho S, Sternlieb I, Scheinberg IH, Goldfischer S. The cardiomyopathy of Wilson’s disease: Myocardial alterations in nine cases. Virch Arch A Pathol Anat 1982; 397:301-311.
68. Sternlieb I, Scheinberg IH. Prevention of Wilson’s disease in asymptomatic patients. N Engl J Med 1968; 278:352-359.
69. Brewer GJ, Dick RD, Yuzbasiyan-Gurkan V, Johnson V, Wang Y. Treatment of Wilson’s disease with zinc: XIII. Therapy with zinc in presymptomatic patients from the time of diagnosis. J Lab Clin Med 1994; 123:849-858.
70. 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; 44:490-493.
71. Brewer GJ, Schilsky M, Hedera P, Carlson MD, Fink JK, Askari FK, Kluin K, Lorincz M, Shneider B, Velickovic M, Blitman S, Mojica J, Vila N. Double blind study of initial therapy of neurological Wilson’s disease. J Invest Med 2003; 51(suppl 2), S369.
72. 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; 48:42-47.
73. Brewer GJ, Dick RD, Johnson V, Wang Y, Yuzbasiyan-Gurkan V, Kluin KJ, Fink JK, Aisen A. Treatment of Wilson’s disease with ammonium tetrathio”-molybdate: I. Initial therapy in 17 neurologically affected patients. Arch Neurol 1994; 51:545-554.
74. Brewer GJ, Johnson V, Dick RD, Wang Y, 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 with zinc therapy. Arch Neurol 1996; 53:1017-1025.
75. Brewer GJ, Hedera P, Kluin KJ, Carlson MD, Askari F, Dick RB, Sitterly JA, Fink JK. 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; 60:378-385.
76. Nazer H, Ede RJ, Mowat AP, Williams R. Wilson’s disease: clinical presentation and use of prognostic index. Gut 1986; 27:1377-1381.
77. 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(6):385-390.
78. Brewer GJ, Dick RD, Johnson VD, Fink JK, Kluin KJ, Daniels S. Treatment of Wilson’s disease with zinc: XVI. Treatment during the pediatric years. J Lab Clin Med 2001; 137(3):191-198.
79. Portala K, Westermark K, et al. Psychopathology in treated Wilson’s disease determined by means of CPRS expert and self-ratings. Acta Psychiat Scand 2000; 101:104-109.
80. Portala K, Westermark K, et al. Personality traits in treated Wilson’s disease determined by means of the Karolinska Scales of Personality (KSP). Eur Psychiatry 2001; 16:362-371.
81. Portala K, Westermark K, et al. Sleep in patients with treated Wilson’s disease. A questionnaire study. Nord J Psychiatry 2002; 56(4):291-297.
82. Portala K, Levander S, et al. Pattern of neuropsychological deficits in patients with treated Wilson’s disease. Eur Arch Psychiatry Clin Neurol 2001; 252(6): 262-268.
83. Portala K. Psychopathology in Wilson’s Disease Thesis. Acta Universitatis Upsaliensis, Uppsala, 2001.