Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Abstract

Objective: Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well-characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods: Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied. MRI included diffusion acquisition using 64 directions, b = 3000 s/mm2. Fixel-based analysis was used to identify white matter pathways with significant abnormality in structural connectivity, with subsequent tract segmentation and analysis. Region-of-interest and whole-brain volumetric analysis of T1-weighted images was performed. The relationship between..