Structural lesions and transcriptomic specializations shape gradient perturbations in Wilson disease.

ABSTRACT: Functional dysregulations in multiple regions are caused by excessive copper deposition in the brain in Wilson disease (WD) patients. The genetic mechanism of WD is thought to involve the abnormal expression of ATP7B in the liver, whereas the biological and molecular processes involved in functional dysregulation within the brain remain unexplored. The objective of this study was to unravel the underpinnings of functional gradient perturbations underlying structural lesions and transcriptomic specializations in WD. In this study, we included 105 WD patients and 93 healthy controls who underwent structural and functional MRI assessments. We used the diffusion mapping embedding model to derive the functional connectome gradient and further employed gray matter volume to uncover struct

SUBMITTER: Hu S 

PROVIDER: S-EPMC11450269 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature