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Advance in the pathogenesis and treatment of Wilson disease

Qin-Yun Dong and Zhi-Ying Wu*

Author Affiliations

Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China

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Translational Neurodegeneration 2012, 1:23  doi:10.1186/2047-9158-1-23

Published: 27 November 2012


Wilson disease is an autosomal recessive disorder of copper metabolism. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring. Genetic analysis for mutations within ATP7B is a convincing diagnostic tool. The traditional treatment for WD includes chelation of excessive copper accumulation and reduction of copper intake. Medical therapy is effective but WD is not yet curable. Liver transplantation is especially helpful for patients who fail to respond to medical therapy or present with fulminant liver failure, although evaluation of its long-term effect are still in need.

Wilson disease; Copper; ATP7B; COMMD1; D-penicillamin; Trientine; Zinc; Ammonium tetrathiomolybdate; Liver transplantation