Wilson's disease

Research output: Contribution to journalReview article

127 Scopus citations

Abstract

Wilson's disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces protean clinical manifestations that may include hepatic, neurological, psychiatric, ophthalmological, and other derangements. Genetic testing is impractical because of the multitude of mutations that have been identified, so accurate diagnosis relies on judicious use of a battery of laboratory and other diagnostic tests. Lifelong palliative treatment with a growing stable of medications, or with liver transplantation if needed, can successfully ameliorate or prevent the progressive deterioration and eventual death that would otherwise inevitably ensue. This article discusses the epidemiology, genetics, pathophysiology, clinical features, diagnostic testing, and treatment of Wilson's disease.

Original languageEnglish (US)
Pages (from-to)123-132
Number of pages10
JournalSeminars in Neurology
Volume27
Issue number2
DOIs
StatePublished - Apr 1 2007

Keywords

  • Ceruloplasmin
  • Copper
  • Penicillamine
  • Wilson's disease
  • Zinc

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Wilson's disease'. Together they form a unique fingerprint.

  • Cite this