A review and update on the diagnosis and treatment of neuropsychiatric Wilson disease.

Introduction: This paper reviews the presenting signs and symptoms of Wilson's disease, with an emphasis on the recognition and treatment of neuropsychiatric symptoms. Areas covered: A literature search was conducted using PubMed.gov utilizing the following keywords: Wilson disease, neuropsychiatric, psychiatric symptoms, treatment, antipsychotics, mood stabilizer, psychotherapy, antidepressant, ATP7B. The diagnosis of Wilson's disease and the treatment of hepatic and neuropsychiatric symptoms are reviewed. Expert opinion: Wilson's disease is a rare autosomal recessive disorder with a heterogeneous presentation. Prominent neuropsychiatric symptoms can cloud the initial diagnosis, delaying treatment. Early disease recognition and prompt treatment to restore copper balance is critical in mitigating neuropsychiatric symptoms. Lifetime adherence to maintenance treatment with a chelating agent or zinc is vital for prevention or recurrence of symptoms. Education and supportive psychotherapy have been shown to improve medication adherence. If a psychotropic medication is needed, preference should be given to one with a low risk for extrapyramidal symptoms and hepatotoxicity.