Psychopathology in Wilson’s disease: a review

Wilson’s disease (WD) is a rare, genetic, metabolic disorder. The accumulation of copper in various organs, mainly the liver and central nervous system, progressively leads to dysfunction. Clinically, at various stages, hepatic, neurological or psychiatric features of WD may predominate. Mild, non-specific cognitive and emotional disorders may precede overt neurological symptoms by many years, causing a delay of the appropriate diagnosis and treatment. If left untreated, Wilson’s disease often leads to death. However, extrapyramidal movement disorders, cognitive and mental disorders, as well as dysarthria, may appear even in those patients who are properly and systematically subjected to pharmacotherapy. The cognitive decline is observed in different domains, mostly attention, memory, as well as flexibility, precision of cognitive activities, and ability to control complex intentional behaviors (aspects of executive function). Psychiatric symptoms often include depression, sometimes abnormal behavior and personality change. Psychoses and bipolar disorder are less frequently reported. The mechanism of psychopathology in WD has been associated mainly with the dysfunction of prefrontal-subcortical brain circuits, which include the basal ganglia, the structures first affected by pathology in the course of the disease. This article presents a review of the literature regarding the prevalence, characteristics and dynamics of psychopathological symptoms, as well as their relationships with other clinical and neuroradiological data.