[Nuclear medicine diagnostics in Wilson's disease]

Wilson's disease is an autosomal recessive disorder of copper metabolism and is caused by a genetic defect on chromosome 13. Nuclear medicine methods can prove the metabolic defect and contribute to the assessment of central neurological deficits.With high specificity and sensitivity, the intravenous radiocopper test enables the diagnosis to be confirmed as the basis for initiating treatment. The oral radiocopper test is used to monitor zinc treatment.[¹²³I]β-CIT-SPECT and [¹²³I]IBZM-SPECT provide functional information of the nigrostriatal system.[¹²³I]β-CIT-SPECT also allows the determination of SERT availability in the hypothalamus/brain stem as a surrogate parameter of depression.Metabolic parameters of the cortex, basal ganglia and cerebellum can be assessed by [¹⁸F]FDG-PET studies.SPECT and [¹⁸F]FDG-PET studies show significant differences between neurological and non-neurological Wilson patients. Overall, only noninvasive in vivo nuclear medicine enables a deeper insight into the pathophysiology of neurological processes in Wilson's disease.