Neurological Wilson Disease

Wilson disease (WD) is an autosomal recessive disease caused by mutations in the ATP7B gene that lead to impaired hepatic disposition of copper. It manifests with overlapping phenotypes of hepatic and neurological impairment. Neurological WD is characterized by movement disorders as well as cognitive and behavioral problems, and it is seen in children and young adults. With early diagnosis and treatment, good neurological outcomes can be expected in most patients. However, both diagnosis and treatment are challenging and neurological WD is often associated with considerable morbidity and mortality. In this review, we outline the clinical spectrum and the steps to identify the syndrome of neurological WD. We also highlight the neuroimaging features of the disease. Additionally, we discuss the principles of decoppering, symptomatic (adjunctive) treatment, and the particular problems faced in treating patients with neurological WD.