A rare disorder of copper metabolism that results from liver dysfunction in which copper accumulates in the liver and in the brain. Copper deposits in the brain cause neurological symptoms that may appear similar to the symptoms of Parkinson’s disease such as tremors, BRADYKINESIA, AKINESIA, STOOPED POSTURE, and GAIT disturbances. Commonly other signs of neurologic (such as cerebellar ataxia), psychiatric, or liver disease are also present.
A gene mutation on chromosome 13 causes Wilson’s disease. Most commonly, the faulty gene is inherited from both parents who are unaffected carriers (autosomal recessive inheritance) although many cases are thought to result from new (de novo) mutations, hence there is usually no history of the disorder in the family. copper accumulations begin at birth and reach a point of causing damage usually when a person is in the 20s and 30s, although symptoms can appear earlier or later. Typically there is significant liver damage long before there are any signs of brain damage, so most people with Wilson’s disease are diagnosed long before they exhibit symptoms similar to those of Parkinson’s. However, a doctor may suspect Parkinson’s disease when a person in his or her 40s has primarily neurological symptoms. Results of laboratory tests to measure the levels of copper in the urine, or the amount of the copper transporting protein ceruloplasm in the blood, are very helpful in making the diagnosis but a biopsy to confirm excess copper deposition in the liver produce a conclusive diagnosis. Treatment to lower copper levels can avert further damage, although it cannot repair damage that has already occurred. untreated Wilson’s disease is fatal.
