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 Kinnier Wilson (1878-1936), British neurologist, who described it in 1912]

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also called  Hepatolenticular Degeneration,  

      a hereditary defect associated with the metabolism of copper and characterized by the progressive degeneration of the basal ganglia of the brain (large group of nuclei involved in the control of movement), the development of a brownish ring at the margin of the cornea, and the gradual replacement of liver cells with fibrous tissue. The disorder, which usually first appears in the second or third decade of life, is caused by a deficiency in the circulation of the copper-binding protein, ceruloplasmin, resulting in an excess of free copper in the body. The copper is deposited in the affected structures, giving rise to the characteristic symptoms, which include tremor, incoordination, and personality changes. In treatment a high-protein, low-copper diet is usually combined with administration of a chelating substance such as penicillamine, which removes the copper from the tissues for excretion in the urine. Early diagnosis and treatment can potentially reverse the effects of the disorder and prevent permanent brain and liver damage.

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