Advanced neuroimaging in rare diseases: The paradigm of quantification in the era of personalized medicine.

Abstract

Rare diseases frequently involve the central nervous system, posing significant diagnostic and monitoring challenges. Recent advances in Magnetic Resonance Imaging (MRI) and neuroradiology have expanded the tools available for RD assessment, encompassing improvements in image acquisition, postprocessing techniques, and functional MRI sequences. Advanced postprocessing methods allow radiologists to derive additional quantitative information from conventional morphological images, including the segmentation and volumetric analysis of brain structures such as gray matter. Functional MRI techniques, such as Diffusion Weighted Imaging, Perfusion Weighted Imaging, or Magnetic Resonance Spectroscopy, further contribute objective metrics reflecting underlying pathophysiological processes, including water diffusion and tissue perfusion. Within the framework of personalized medicine, integrating these advanced neuroimaging approaches may improve diagnostic precision and support treatment monitoring, follow-up, and disease surveillance. This review highlights the application of advanced neuroimaging tools across a range of clinical scenarios relevant to rare diseases, including cranial and structural abnormalities, white matter disorders, tumor assessment, and vascular conditions.