Neurologically presenting Wilson's disease: Epidemiology, pathophysiology and treatment

CNS Drugs

Volumn 19, Issue 3, 2005, Pages 185-192

  Brewer, George J ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHELATING AGENT; COPPER; PENICILLAMINE; TETRATHIOMOLYBDIC ACID; TRIENTINE; ZINC;

ANEMIA; ATP7B GENE; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR DISORDER; BILE; BILIARY EXCRETION; BONE MARROW SUPPRESSION; CLINICAL FEATURE; COPPER EXCRETION; COPPER METABOLISM; COPPER URINE LEVEL; DISEASE COURSE; DRUG MECHANISM; DRUG MIXTURE; DRUG POTENTIATION; DYSTONIA; GENE; GENE MUTATION; HUMAN; KAYSER FLEISCHER RING; LEUKOPENIA; LIVER DISEASE; LIVER FAILURE; MENTAL DISEASE; MOTOR COORDINATION; MOTOR DYSFUNCTION; MOTOR INCOORDINATION; NEUROLOGIC DISEASE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RARE DISEASE; REVIEW; SPEECH DISORDER; TOXICITY; TREATMENT CONTRAINDICATION; TREMOR; URINE LEVEL; WILSON DISEASE;

BEHAVIOR; CHELATING AGENTS; ENZYME INHIBITORS; HEPATOLENTICULAR DEGENERATION; HUMANS; MOLYBDENUM; NERVOUS SYSTEM DISEASES; PENICILLAMINE; TRIETHYLENETETRAMINE; ZINC;

EID: 16244386202     PISSN: 11727047     EISSN: None     Source Type: Journal    
DOI: 10.2165/00023210-200519030-00001     Document Type: Review

References (31)

1. Brewer GJ. Recognition, diagnosis and management of Wilson's disease. Proc Soc Exp Biol Med 2000; 223 (1): 39-49
2. Brewer GJ, Yuzbasiyan-Gurkan V. Wilson's disease. Medicine 1992; 71: 139-64
3. Brewer GJ. Wilson's disease: a clinician's guide to recognition, diagnosis, and management. Boston (MA): Kluwer Academic Publishers, 2001
4. Bull PC, Thomas GR, Rommens JM, et al. The Wilson's disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993; 5: 327-37
5. 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
6. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993; 197: 271-7
7. Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith Jr LH, editor. Major problems in internal medicine. Vol. 23. Philidelphia (PA): WB Saunders Company, 1984
8. Olivarez L, Caggana M, Pass KA, et al. Estimate of the frequency of Wilson's disease in the U.S. Caucasian population: a mutation analysis approach. Ann Hum Genet 2001; 64: 459-63
9. Cox DW, Roberts EA. Wilson disease [online]. GeneClinics, University of Washington, Seattle. Available from URL: http://www.geneclinics.org/profiles/ wilson/details.html [Accessed 2005 Feb 18]
10. Deiss A, Lee GR, Cartwright GE. Hemolytic anemia in Wilson's disease. Ann Intern Med 1970; 73: 413-8
11. 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: 22-9
12. Mital VP, Wahal PK, Bansal OP. A study of erythrocyte glutathione in acute copper sulphate poisoning. Indian J Pathol Bacteriol 1966; 9: 156-62
13. Brewer GJ, Yuzbasiyan-Gurkan V, Dick R, et al. Does a vegetarian diet control Wilson's disease? J Am Coll Nutr 1993; 12: 527-30
14. Akil M, Schwartz JA, Dutchak D, et al. The psychiatric presentations of Wilson's disease. J Neuropsychiatry Clin Neurosci 1991; 3: 377-82
15. Fink JK, Hedera P, Brewer GJ. Hepatolenticular degeneration (Wilson's disease). Neurologist 1999; 5: 171-85
16. Brewer GJ, Fink JK, Hedera P. Diagnosis and treatment of Wilson's disease. Semin Neurol 1999; 19 (3): 261-70
17. Owen Jr CA. Wilson's disease: the etiology, clinical aspects, and treatment of inherited copper toxicosis. Park Ridge (NJ): Noyes Publications, 1981
18. Starosta-Rubinstein S, Young AB, Kluin K. Clinical assessment of 31 patients with Wilson's disease. Arch Neurol 1987; 44: 365-70
19. Yuzbasiyan-Gurkan V, Grider A, Nostrant T, et al. The treatment of Wilson's disease with zinc X: intestinal metallothionein induction. J Lab Clin Med 1992; 120: 380-6
20. Brewer GJ, Hill GM, Prasad AS, et al. Oral zinc therapy for Wilson's disease. Ann Intern Med 1983; 99: 314-20
21. Brewer GJ, Dick RD, Johnson VD, et al. The treatment of Wilson's disease with zinc XV: long-term follow-up studies. J Lab Clin Med 1998; 132: 264-78
22. Hoogenraad TU, Van den Hamer CJA. Management of Wilson's disease with zinc sulfate: experience in a series of 27 patients. J Neurol Sci 1987; 77: 137-46
23. Walshe JM. Penicillamine: a new oral therapy for Wilson's disease. Am J Med 1956; 21: 487-95
24. Walshe JM. Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride. Lancet 1982; I: 643-7
25. Nazer H, Ede RJ, Mowat AP, et al. Wilson's disease: clinical presentation and use of prognostic index. Gut 1986; 27: 1377-81
26. Askari FK, Greenson J, Dick RD, et al. Treatment of Wilson's disease with Zinc XVIII: initial treatment of the hepatic decompensation presentation with trientine and zinc. J Lab Clin Med 2003 Dec; 142 (6): 385-90
27. Brewer GJ, Terry CA, Aisen AM, et al. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 1987; 44: 490-3
28. Mason J. The biochemical pathogenesis of molybdenum-induced copper deficiency syndromes in ruminants: towards the final chapter. Ir Vet J 1990; 43: 18-21
29. McQuaid A, Mason J. A comparison of the effects of penicillamine, trientine, and trithiomolybdate on [35S]-labeled metallothionein in vitro: the implications for Wilson's disease therapy. J Inorg Biochem 1991; 41: 87-92
30. 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: 378-85
31. Brewer GJ, Schilsky M, Hedera P, et al. Double blind study of initial therapy of neurological Wilson's disease [abstract]. J Investig Med 2003; 51 Suppl. 2: S369