Original Article: PDF OnlyHEPATOLENTICULAR DEGENERATION (WILSON'S DISEASE)Fink, John K. MD; Hedera, Peter MD; Brewer, George J. MD Author Information From the Departments of Neurology, Internal Medicine, and Human Genetics, University of Michigan; Geriatrics Research, Education, and Care Center, Ann Arbor Veteran's Affairs Medical Center, Ann Arbor, Michigan. The Neurologist: July 1999 - Volume 5 - Issue 4 - p 171-185 Buy Abstract BACKGROUND-Wilson's disease is a recessively inherited disorder in which homozygous mutation in the copper ATPase ATP7B gene (on chromosome 13) reduces the liver's ability to secrete ceruloplasmin into the plasma and to excrete it into the bile. REVIEW SUMMARY-Systemic copper accumulation leads to progressive hepatic dysfunction, neurologic impairment, psychiatric disturbance, or combinations of these symptoms. Wilson's disease is diagnosed by measuring 24-hour urine copper excretion, followed by measuring copper in a liver biopsy sample. Wilson's disease is treated by copper removal therapy (penicillamine or trientine), followed by maintenance therapy with zinc. Frequent exacerbation of neurologic impairment with penicillamine has prompted the use of tetrathiolmolybdate as an alternative decoppering agent. CONCLUSION-Wilson's disease should be considered in all patients with unexplained hepatic disturbance and those with unexplained, progressive movement disorders or psychiatric disturbance. Early diagnosis and appropriate treatment are essential. Tetrathiolmolybdate seems to be as effective as penicillamine and is associated with less freqeunt neurologic worsening compared with penicillamine. © 1999 Lippincott Williams & Wilkins, Inc.