Texts published, in 1912, 100 years ago, by Sir K. Wilson on his eponymous disease in Brain, The Lancet and La Revue Neurologique highlight the relevance of his descriptions in the light of the current knowledge. Wilson's invocation of an “unknown toxin” appears today as a prophetic intuition as the presence of excess copper in the liver was mentioned for the first time a year later whereas the role of copper in this disease was not described until 1929. Progress has been made to better understand the physiology of Wilson's disease (WD). The ATP7B gene implicated in WD is located on chromosome 13 and more than 500 mutations and 100 polymorphisms have been to date identified. The phenotypic expression is highly variable, even within a family. This can partly be explained by environmental factors as nutrition. Modulator genes are also involved in the phenotypic expression of the disease. Most of symptoms observed in WD have already been described in detail by Wilson in 1912, but subsequent progress was made over the following 100 years, helping the physician diagnose WD. Hepatic and neurological symptoms are the most frequent expressions of the disease. Other extrahepatic features include renal manifestations, osteoarticular disorders, myocardial abnormalities, endocrine disturbances, realizing a multisystemic disease. The diagnosis of the disease is based on a combination of clinical symptoms, biological, radiological and genetic data and new tools (Brain MRI, relative exchangeable copper…) allow reducing delay to diagnosis. Therapeutic findings have also changed the disease prognosis. Treatment is based on the use of copper chelators to promote copper excretion from the body (D-penicillamine and Triethylenetetramine) and zinc salts to reduce copper absorption. Tetratiomolybdate appears to be a promising treatment. While significant progress has been made during this century, many physiological aspects of this disease remain unknown and require further research to find answers in the next 100 years.

Sir K. Wilson publia, en 1912, il y a 100ans, une série d’article sur la maladie de Wilson dans Brain, The Lancet et La Revue Neurologique. Ces textes reflètent la pertinence de ses descriptions à la lumière des connaissances actuelles. Des progrès ont été réalisés ces dernières années pour mieux comprendre la physiologie de la maladie de Wilson (MW) et aider le médecin à faire le diagnostic plus précocement. Les symptômes hépatiques et neurologiques sont les manifestations les plus fréquentes mais les atteintes rénales, ostéo-articulaires, cardiaques et endocriniennes font de la MW une maladie multisystémique. Le diagnostic repose sur la combinaison de symptômes cliniques, biologiques, radiologiques et des données génétiques et de nouveaux outils (IRM cérébrale, dosage du cuivre échangeable relatif…) qui permettent de réduire le délai entre les premiers symptômes et le diagnostic. Les avancées thérapeutiques ont également changé le pronostic de la maladie. Le traitement est basé sur des chélateurs du cuivre (D-pénicillamine et la triéthylènetétramine) et des sels de zinc pour réduire l’absorption du cuivre. Le tétratiomolybdate semble être un traitement prometteur. Bien que des progrès importants aient été réalisés au cours de ce siècle, de nombreuses questions trouveront peut-être des réponses dans ces 100 prochaines années.