Prader-Willi syndrome (PWS), a rare epigenetic disease mapping the imprinted chromosomal domain of 15q11.2-q13.3, manifests a regular neurodevelopmental trajectory in different phases. The current multimodal magnetic resonance imaging (MRI) approach for PWS focues on morphological MRI (mMRI), diffusion MRI (dMRI) and functional MRI (fMRI) to uncover brain alterations. This technique offers another perspective to understand potential neurodevelopmental and neuropathological processes of PWS, in addition to specific molecular gene expression patterns, various clinical manifestations and metabolic phenotypes. Multimodal MRI studies of PWS patients demonstrated common brain changes in the volume of gray matter, the integrity of the fiber tracts and the activation and connectivity of some networks. These findings mainly showed that brain alterations in the frontal reward circuit and limbic system were related to molecular genetics and clinical manifestations (e.g., overwhelming eating, obsessive compulsive behaviors and skin picking). Further exploration using a large sample size and advanced MRI technologies, combined with artificial intelligence algorithms, will be the main research direction to study the structural and functional changes and potential pathogenesis of PWS.
Keywords: Prader–Willi syndrome; brain function; brain structure; diffusion MRI; functional MRI; morphological MRI.