Wilson's disease

A chronic disease of brain and liver with progressive neurological dysfunction, due to a disturbance of copper metabolism. Low ceruloplasmine levels permit accumulation of copper in the brain, liver, kidneys, and cornea. It is characterized by progressive degeneration of the basal ganglia of the brain, a brownish ring (Kayser-Fleischer ring) at the outer margin of the cornea caused by deposition of copper in the Descemet membrane, cirrhosis of the liver, splenomegaly, tremor, muscular rigidity, involuntary movements, spastic contractures, psychic disturbances, and progressive weakness and emaciation.

A rare, autosomal recessively inherited condition which most often presents between 10 and 30 years of age. Slightly more prevalent in males. Females more often present with hepatic failure, males more often with neurological symptoms. In group of Eastern Europe extraction, later onset. Frequency is 30-60 per one million. The faulty gene has been localized to chromosome 13.

First described by Friedrich Theodor von Frerichs (1819-1885) in 1854, then by Karl Friedrich Otto Westphal in 1883, and by Adolf von Strümpell in 1898.

• F. T. von Frerichs:
  Klinik der Leberkrankheiten.
  2 volumes and atlas. Braunschweig, F. Vieweg u. Sohn, 1858-1861. The description of progressive familal hepatolenticular degneration is in volume 2, pp. 62-64.
• K. F. O. Westphal:
  Über eine dem Bilde der cerebrospinalen grauen Degeneration ähnliche Erkrankung des centralen Nervensystems ohne anatomischen Befund, nebst einigen Bemerkungen über paradoxe Contraktion.
  Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1883,14: 87-134, 767-769.
• A. von Strümpell:
  Über die Westphal’sche Pseudosklerose und über diffuse Hirnsklerose, insbesondere bei Kindern.
  Deutsche Zeitschrift für Nervenheilkunde, Berlin, 1898,12: 115-149.
• S. A. K. Wilson:
  Progressive lenticular degeneratio. A familial nervous disease associated with cirrhosis of the liver.
  Brain, Oxford, 1912, 34: 295-507
• N. V. Konovalov:
  Gepato-tserebral’naia distrofia. Moscow, Medgiz, 1960.