Definition: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
lenticular refers to the lenticular nucleus in the brain
Other names Wilson Disease; Pseudosclerosis; Neurohepatic Degeneration; Cerebral Pseudosclerosis; Wilsons Disease; Pseudosclerosis, Cerebral; Pseudoscleroses, Cerebral; Neurohepatic Degenerations; Lenticular Degeneration, Progressive; Kinnier-Wilson Diseases; Kinnier Wilson Disease; Hepatocerebral Degenerations; Hepato-Neurologic Wilson Diseases; Hepato Neurologic Wilson Disease; Diseases, Kinnier-Wilson; Diseases, Hepato-Neurologic Wilson; Degenerations, Neurohepatic; Degenerations, Hepatocerebral; Degeneration, Progressive Lenticular; Degeneration, Neurohepatic
