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In 1912, Wilson penned, as his doctoral thesis, his now-classic treatise describing the clinical and pathological features of the disease he labeled progressive hepatolenticular degeneration.1 He was not, however, the first to describe the illness that now bears his name. Case descriptions of what likely was Wilson's disease (WD) were published by Frerichs in 1860,2 Westphal in 1885,3 Gowers in 1888,4 Ormerod in 1890,5 Homen in 1892,6 and Strümpell in 1898,7 but it was Wilson who accurately and in exhausting detail delineated the characteristics of this illness and distilled the information into a coherent clinical picture.

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Since Wilson's description, our present-day understanding of WD has evolved and matured, with contributions from many individuals. Kayser in 19028 and Fleischer in 1903 and 19129, 10 first described the rings of corneal pigmentation that are now so firmly linked with WD. Although Rumpel first described increased hepatic copper content in WD in 1913,11 it was not until 1948, when Mandelbrote and colleagues12 noted increased urinary excretion of copper and Cumings13 documented copper deposits in both liver and brain, that WD was finally recognized as a disturbance of copper metabolism. Ceruloplasmin deficiency was subsequently documented independently by Scheinberg and Gitlin14 and by Bearn and Kunkel15 in 1952. The presence of impaired biliary excretion of copper in WD was first reported by Frommer in 1974.16 The last six decades have been marked by dramatic advances in our ability to treat WD, and the last 15 years have witnessed the identification and characterization of the genetic abnormality responsible for WD.

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Although not recognized by Wilson himself—he noted it to be familial but believed that a toxin was the likely cause—WD was identified as a hereditary process by Hall in 1921.17 It is an autosomal-recessive disease. Estimates of prevalence vary widely, but WD is by all accounts a rare disorder. A prevalence rate of 30 cases per million is often quoted,18 but both lower and higher estimates have also been published, with more recent studies tending to show higher rates, perhaps due to improved diagnostic capability.19 There is considerable geographic variability in prevalence rates for WD; in Europe a prevalence rate of 12–29 per million has been reported, which pales in comparison to a reported rate of 33–68 in Japan20 A birth incidence rate of 17 per million (1 per 59,000) was reported in Ireland for the years 1950–1969;21 others report incidence rates in the range of 1 per 30,000–40,000.22, 23 The incidence of WD in the United States has been estimated to be approximately one in 55,000 births.23 It also has been estimated that there are approximately 6000 cases of WD in the United States and that approximately 1% of the population are carriers.22

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In 1985, Frydman and colleagues proposed chromosome 13 as the location of the mutation responsible ...

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