Neuroimaging correlates of genetics in patients with Wilson’s disease

Wilson's disease is an inherited disorder of copper metabolism. Despite significant advancements in neuroimaging studies, prior research into the pathological mechanism of Wilson's disease has ignored the crucial impact of mutation on the disease. This study examined brain imaging in relation to mutation in patients with Wilson's disease. A total of 57 Wilson's disease patients and 25 healthy controls were recruited in the current research. Patients were classified as having either the p.R778L or the p.P992L mutation (N = 43) or other mutations (N = 14). Utilizing the amplitude of low-frequency fluctuations, fractional amplitude of low-frequency fluctuations, and voxel-based morphology, the brain function and structure of Wilson's disease were explored. Compared to healthy controls, Wilson's disease patients with the p.R778L or p.P992L mutation showed greater atrophy in the bilateral putamen, caudate, globus pallidus, thalamus, amygdala, insula, and hippocampus. And these patients showed altered spontaneous neural activity in many more brain regions than healthy controls in three frequency bands. Significant correlation was found between altered brain volume and Unified Wilson's Disease Rating Scale neurological subscale scores. These findings reveal the functional and structural characteristics of Wilson's disease and emphasize the importance of exploring the neuroimaging correlation of genetic mutations in Wilson's disease.