Wilson’s disease

Sažetak

Wilson’s disease (hepatolenticular degeneration), an autosomal recessive inherited disorder of copper metabolism, is one of the very few chronic neurologic diseases for which specific and effective treatment is available. The longer the recognition and diagnosis is delayed, the greater is the risk of permanent damage primarily to the liver and/or brain. On the contrary, early treatment may reverse even long-lasting symptoms. The disease is more frequent than it is usually believed. Unfortunately, a misdiagnosis appears early in the course of the disease. Diagnostic dilemmas have for the most part not been resolved by the identification and cloning of the WD gene. On the basis of the authors’ own long-term results in adult neurologic patients with Wilson’s disease, along with the published studies from the literature, the authors give a survey of the current knowledge about hepatolenticular degeneration.