Wilson's disease

Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach

“…The disease is due to a failure of biliary excretion of excess copper, leading to copper accumulation and copper toxicity (Glazebrook, 1945 ;Cummings, 1948). Patients usually present during the second or third decades of life with a movement disorder-type neurologic syndrome, behavioral disturbances, liver disease, or some combination of the three.…”

History of Wilson's disease: 1912 to 2000

“…Siemerling and Oloff 13 described the association of KF rings and sunflower cataracts and noted the similarity of the cataracts to those produced by a copper-containing foreign body in the eye. In 1929, Vogt, 14 followed in 1930 by Haurowitz 15 and later Glazebrook, 16 reported excess copper in the brain or liver of patients dying with the disease.…”

Commentary: Landmark articles on copper in the field of human health

“…After Fleischer in 1912 observed elevated copper in the cornea, Rumpel in 1913 [11], Vogt in 1929 [12], and Haurowitz in 1930 [13] observed elevated hepatic copper levels in Wilson's disease patients. Glazebrook in 1945 [14] and Cumings in 1948 [15] detected elevated copper in both liver and brain tissue in patients, and for the first time, began to discuss an etiological role for copper. We'll return to those two papers in a moment.…”

“…These are the papers by Glazebrook (Wilson's disease. Edinburgh Med J 52:83-87, 1945 [14]) and Cummings (The copper and iron content of brain and liver in the normal and in hepatolenticular degeneration. Brain 71:410-415, 1948 [15]).…”

“…The paper by Glazebrook [14] describes two cases of Wilson's disease. The second patient died in hospital and an autopsy was carried out.…”