TY - JOUR T1 - Sensorimotor, Visual, and Auditory Cortical Atrophy in Unverricht-Lundborg Disease Mapped with Cortical Thickness Analysis JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 878 LP - 883 DO - 10.3174/ajnr.A2882 VL - 33 IS - 5 AU - P. Koskenkorva AU - E. Niskanen AU - J. Hyppönen AU - M. Könönen AU - E. Mervaala AU - H. Soininen AU - R. Kälviäinen AU - R. Vanninen Y1 - 2012/05/01 UR - http://www.ajnr.org/content/33/5/878.abstract N2 - BACKGROUND AND PURPOSE: EPM1, caused by mutations in the CSTB gene, is the most common form of PME. The most incapacitating symptom of EPM1 is action-activated and stimulus-sensitive myoclonus. The clinical severity of the disease varies considerably among patients, but so far, no correlations have been observed between quantitative structural changes in the brain and clinical parameters such as duration of the disease, age at onset, or myoclonus severity. The aim of this study was to evaluate possible changes in CTH of patients with EPM1 compared with healthy controls and to correlate those changes with clinical parameters. MATERIALS AND METHODS: Fifty-three genetically verified patients with EPM1 and 70 healthy volunteers matched for age and sex underwent 1.5T MR imaging. T1-weighted 3D images were analyzed with CTH analysis to detect alterations. The patients were clinically evaluated for myoclonus severity by using the UMRS. Higher UMRS scores indicate more severe myoclonus. RESULTS: CTH analysis revealed significant thinning of the sensorimotor and visual and auditory cortices of patients with EPM1 compared with healthy controls. CTH was reduced with increasing age in both groups, but in patients, the changes were confined specifically to the aforementioned areas, while in controls, the changes were more diffuse. Duration of the disease and the severity of myoclonus correlated negatively with CTH. CONCLUSIONS: Cortical thinning in the sensorimotor areas in EPM1 correlated significantly with the degree of the severity of the myoclonus and is most likely related to the widespread stimulus sensitivity in EPM1. CSTBcystatin B geneCTHcortical thicknessEPM1Unverricht-Lundborg diseaseFDRfalse discovery rateGMgray matterMEGmagnetoencephalographyPMEprogressive myoclonus epilepsiesSIIsecondary sensory cortexUMRSUnified Myoclonus Rating ScaleVBMvoxel-based morphometry ER -