Wilson's disease (WD) is eponymous with the British neurologist Samuel Alexander Kinnier Wilson. Wilson described the pathology as progressive lenticular degeneration, referring to the degeneration of the lentiform nucleus of the brain (putamen and globus pallidus), presenting as an extrapyramidal syndrome and associated with concomitant liver cirrhosis. Earlier reports by Westphal, in 1853, had described cases of "pseudosclerosis" with symptoms similar to multiple sclerosis, including tremor. Fleischer along with Kayser had reported similar cases in association with a pigmented corneal ring, in 1912. Hall and Neale, in 1921, brought these various stands together and coined the term hepatolenticular degeneration and also observed the heritable nature of the disease. Cumings made a major contribution by describing copper accumulation in the liver and the brain. The concept of chelation therapy was introduced by Denny-Brown and Porter who used British Anti-Lewisite, which was superseded by the introduction of penicillamine by Walshe, which was less toxic and could be administered orally. A further advance in understanding the etiology was the elucidation of the genetic basis of Wilson's disease and its linkage to ATP7B mutations localized to chromosome 13q14-q21. The historical aspects of WD have been reviewed in detail by Barbosa et al.
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机译：威尔逊氏病（WD）与英国神经病学家塞缪尔·亚历山大·金尼尔·威尔逊（Samuel Alexander Kinnier Wilson）同名。威尔逊将病理学描述为进行性双凸状变性，是指大脑的半形核（丘脑和苍白球）的变性，表现为锥体束外综合征，并伴有肝硬化。韦斯特法尔（Westphal）在1853年的早期报道中描述了“假性硬化症”，其症状类似于多发性硬化症，包括震颤。 Fleischer和Kayser在1912年曾报道过类似的案例，这些病例与角膜色素沉着环相关。Hall和Neale在1921年将这些不同的支架放在一起，并创造了术语“肝/肾小球变性”，并观察到了这种疾病的遗传性。 Cumings通过描述铜在肝脏和大脑中的积累做出了重要贡献。螯合疗法的概念是由使用英国抗Lewisite药的Denny-Brown和Porter提出的，后来被Walshe引入的青霉素胺（毒性较低且可以口服）取代。在了解病因方面的进一步进步是阐明了威尔逊氏病的遗传基础及其与定位于13q14-q21染色体的ATP7B突变的联系。 WD的历史方面已经由Barbosa等人进行了详细回顾。
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