Multiple sclerosis: advances and challenges in diagnosis

This article explores the most recent developments in multiple sclerosis (MS), including a selection of advances in diagnostic neuroimaging markers. The proposed revision of diagnostic criteria, new concepts on the prodromal period, and differential diagnosis of MS are included as well.

Interesting changes have been introduced to the recently proposed 2024 revisions of MS diagnostic criteria. Optic nerve is proposed as the 5 th CNS topography, additional advanced MRI markers are included, as well as specific cases of "radiologically isolated syndrome" considered at risk of future relapses.The diagnostic power of the central vein sign, paramagnetic rim lesion, and cortical lesions have been demonstrated in recent lines of research in adult and pediatric patients with MS. The contribution of cortical lesions, slowly expanding lesions, choroid plexus enlargement, paramagnetic rim lesions, leptomeningeal enhancement, in addition to measurement of brain and spinal cord atrophy, have expanded our understanding of early disease progression.

This review highlights a selection of recent studies that have significantly contributed to increase the accuracy of MS diagnosis in both pediatric and adult patients, and demonstrated the potential to improve the early detection of disease progression.