Purpose of Review: This article reviews the clinical features of Wilson disease, focusing on the neurologic and psychiatric abnormalities, and addresses the diagnostic workup and treatment approaches to managing the disease.
Recent Findings: The list of known mutations causing Wilson disease continues to grow, but advances in genetic testing may soon make it feasible to routinely perform genetic testing on individuals suspected of having Wilson disease.
Summary: Wilson disease is a rare genetic disorder with protean manifestations that should be considered in the differential diagnosis of any individual presenting with unexplained neurologic, psychiatric, or hepatic dysfunction. Appropriate diagnostic testing should be expeditiously performed and treatment promptly initiated and maintained since failure to diagnose and treat Wilson disease will result in progressive and ultimately irreversible damage to the neurologic and other systems.
Address correspondence to Dr Ronald F. Pfeiffer, Department of Neurology, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239-3098, firstname.lastname@example.org.
Relationship Disclosure: Dr Pfeiffer received personal compensation for serving on the advisory boards of Acadia Pharmaceuticals Inc, Lundbeck, and Pfizer Inc, as a consultant for Clintara LLC, for serving as co-editor-in-chief of Parkinsonism & Related Disorders, and for serving on the speakers bureau of Teva Pharmaceutical Industries Ltd. Dr Pfeiffer served on the editorial boards of the International Journal of Brain Science and the Journal of Parkinson’s Disease and receives publishing royalties from CRC Press, Taylor & Francis Group, and Humana Press/Springer. Dr Pfeiffer served as principal investigator of a study for the Michael J. Fox Foundation, the Parkinson Study Group, and Rhythm Pharmaceuticals, Inc.
Unlabeled Use of Products/Investigational Use Disclosure: Dr Pfeiffer discusses the unlabeled/investigational use of zinc for the treatment of Wilson disease.
Supplemental digital content: Videos accompanying this article are cited in the text as Supplemental Digital Content. Videos may be accessed by clicking on links provided in the HTML, PDF, and app versions of this article; the URLs are provided in the print version. Video legends begin on page 1259.