Wilson's disease

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.

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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.
S. A. K. Wilson (1878-1936), British neurologist

Medical dictionary. 2011.

Look at other dictionaries:

  • Wilson's disease — Classification and external resources A Kayser Fleischer ring (the brown ring on the edge of the iris) is common in Wilson s disease, especially when neurological symptoms are present ICD …   Wikipedia

  • Wilson's disease — n. [after S. Wilson (1874 1937), Eng neurologist, born in U.S.] a disease characterized by abnormal accumulation of copper in the brain, liver, etc …   English World dictionary

  • Wilson's disease — noun a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain • Syn: ↑hepatolenticular degeneration • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic… …   Useful english dictionary

  • Wilson's disease — noun Etymology: Samuel A. K. Wilson died 1937 English neurologist Date: circa 1915 a hereditary disease that is characterized by excessive accumulation of copper in the body (as in the liver or brain) due to abnormal copper metabolism, is… …   New Collegiate Dictionary

  • Wilson's disease — Wil′son s disease n. pat a rare hereditary disease marked by copper accumulation in the brain and liver, leading to neurological damage and kidney malfunction • Etymology: after Samuel Alexander Kinnier Wilson (1878–1936), British neurologist,… …   From formal English to slang

  • Wilson's disease — Pathol. a rare hereditary disease in which copper accumulates in the brain and liver, gradually leading to tremors, muscular rigidity, kidney malfunction, and cognitive disturbances: marked by Kayser Fleischer rings. [named after Samuel Alexander …   Universalium

  • Wilson's disease — noun An autosomal recessive genetic disorder in which copper accumulates in tissues, resulting in neurological or psychiatric symptoms and liver disease …   Wiktionary

  • Wilson's disease — 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… …   The new mediacal dictionary

  • Болезнь Вильсона, Болезнь Вильсона-Коновалова (Wilson'S Disease) — врожденное нарушение метаболизма меди, характеризующееся недостаточным содержанием в организме церулоплазмина (в норме образующего нетоксичное соединение с медью). Свободная медь может оседать в клетках печени, вызывая развитие желтухи и цирроза… …   Медицинские термины

  • Wilson disease protein — (also called ATP7B) is an ATPase that transports copper. PBB Summary section title = summary text = This gene is a member of the P type cation transport ATPase family and encodes a protein with several membrane spanning domains, an ATPase… …   Wikipedia

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