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Wil·son's disease 'wil-sənz- n a hereditary disease that is characterized by the accumulation of copper in the body (as in the liver, brain, or cornea) due to abnormal copper metabolism associated with ceruloplasmin deficiency, that is determined by an autosomal recessive gene, and that is marked esp. by liver dysfunction and disease and neurologic or psychiatric symptoms (as tremors, slowness of speech, inappropriate behaviors, or personality changes) called also hepatolenticular degeneration see KAYSER-FLEISCHER RING

Wilson Samuel Alexander Kinnier (1877-1937)

British neurologist. Wilson enjoyed long-term associations with King's College Hospital and the National Hospital for the Paralyzed and Epileptic, both in London. His neurological studies covered such diverse topics as epilepsy, narcolepsy, speech disorders, apraxia, and pathological laughing and crying. In 1912 he published a monograph on progressive lenticular degeneration, which is now known as Wilson's disease. He was the first to detect the relationship between liver disease and putaminous destruction.

an inborn defect of copper metabolism in which there is a deficiency of caeruloplasmin (which normally forms a nontoxic complex with copper). The free copper may be deposited in the liver, causing jaundice and cirrhosis, or in the brain, causing mental retardation and symptoms resembling parkinsonism. There is a characteristic brown ring in the cornea (the Kayser-Fleischer ring). If the excess copper is removed from the body by regular treatment with penicillamine both mental and physical development may be normal. Medical name: hepatolenticular degeneration.