Wilson Disease: An Overview and Approach to Management.

Caitlin Mulligan, Jeff M Bronstein

Journal: Neurologic clinics 2020;38(2):417-432

PMID: 32279718

Full Text on Elsevier Science View on PubMed

Abstract

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.

Address: Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive #0886, La Jolla, CA 92092, USA.; Department of Neurology, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095, USA. Electronic address: [email protected].

DOI: 10.1016/j.ncl.2020.01.005

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MeSH Terms: Hepatolenticular Degeneration, Humans