Wilson's disease

Ronald F. Pfeiffer

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


In the almost 100 years since Wilson's description of the illness that now bears his name, tremendous advances have been made in our understanding of this disorder. The genetic basis for Wilson's disease - mutation within the ATP7B gene - has been identified. The pathophysiologic basis for the damage resulting from the inability to excrete copper via the biliary system with its consequent gradual accumulation, first in the liver and ultimately in the brain and other organs and tissues, is now known. This has led to the development of effective diagnostic and treatment modalities that, although they may not eliminate the disorder, do provide the means for efficient diagnosis and effective amelioration if carried out in a dedicated and persistent fashion. Nevertheless, Wilson's disease remains both a diagnostic and treatment challenge for physician and patient. Its protean clinical manifestations make diagnosis difficult. Appropriate diagnostic evaluations to confirm the diagnosis and institute treatment can be confusing. In this chapter, the clinical manifestations, diagnostic evaluation, and treatment approaches for Wilson's disease are discussed.

Original languageEnglish (US)
Pages (from-to)681-709
Number of pages29
JournalHandbook of Clinical Neurology
StatePublished - Apr 20 2011

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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