Neurol Clin. 2020 May;38(2):417-432. doi: 10.1016/j.ncl.2020.01.005. Epub 2020 Feb 28.
Wilson's disease is one of the few preventable movement disorders in which there are therapies that modify disease progression. This disease is caused by copper overload caused by reduced copper excretion secondary to genetic mutations in the ATP7B gene. Copper overload can lead to a variety of clinical presentations, including neurologic symptoms, liver failure, and/or psychiatric manifestations. There is often a delay in diagnosis of Wilson disease, and awareness of the diagnosis and management is important because of the treatable nature of this condition. This article reviews the clinical presentation, epidemiology, genetics, pathophysiology, diagnosis, and management of Wilson disease.