A century for progress in the diagnosis of Wilson disease

The diagnosis of Wilson disease has evolved from the original description of a neurological syndrome by Wilson and other contemporaries at the turn of the 20th century to where we recognize that there is a spectrum of clinical liver and neuropsychiatric disease diagnosed by a combination of clinical and biochemical tests and more recently by molecular genetic analysis. The history of the evolution of the findings that help us establish a diagnosis of Wilson disease are presented in the following brief summary of a century of progress toward this end.