Psychiatric Symptoms in Wilson's Disease-Consequence of Gene Mutations or Just Coincidence?-Possible Causal Cascades and Molecular Pathways.

Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. The genetic defect in WD affects the gene, which encodes the ATP7B transmembrane protein, which is essential for maintaining normal copper homeostasis in the body. It is primarily expressed in the liver and acts by incorporating copper into ceruloplasmin (Cp), the major copper transport protein in the blood.

Brain morphometry in hepatic Wilson disease patients.

Wilson disease (WD) primarily presents with hepatic and neurological symptoms. While hepatic symptoms typically precede the neurological manifestations, copper accumulates in the brain already in this patient group and leads to subclinical brain MRI abnormalities including T2 hyperintensities and atrophy. This study aimed to assess brain morphological changes in mild hepatic WD.