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Neurologic Wilson's disease

Ann N Y Acad Sci. 2010 Jan:1184:173-87. doi: 10.1111/j.1749-6632.2009.05109.x.

Abstract

Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. Clinical manifestations of neurologic Wilson's disease include variable combinations of dysarthria, dystonia, tremor, and choreoathetosis. Among neurodegenerative diseases, it is unusual in that misdiagnosis and delay in treatment are clinically relevant because treatments can prevent and cure Wilson's disease, if they are given appropriately. If left untreated, Wilson's disease progresses to hepatic failure or severe neurologic disability and death, while those adequately treated have normal life spans. This review focuses on the neurologic features of Wilson's disease, its diagnosis, and treatment options.

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adolescent
  • Adult
  • Age of Onset
  • Ataxia / etiology
  • Cation Transport Proteins / genetics
  • Child
  • Cognition Disorders / etiology
  • Copper / metabolism
  • Copper-Transporting ATPases
  • Dysarthria / etiology
  • Dystonia / etiology
  • Eye Diseases / etiology
  • Hepatolenticular Degeneration / epidemiology
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / metabolism
  • Hepatolenticular Degeneration / pathology
  • Humans
  • Liver Diseases / etiology
  • Liver Diseases / pathology
  • Mutation*

Substances

  • Cation Transport Proteins
  • Copper
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases