RT Journal Article
SR Electronic
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.
FD American Society of Neuroradiology
SP 878
OP 883
DO 10.3174/ajnr.A2882
VO 33
IS 5
A1 P. Koskenkorva
A1 E. Niskanen
A1 J. Hyppönen
A1 M. Könönen
A1 E. Mervaala
A1 H. Soininen
A1 R. Kälviäinen
A1 R. Vanninen
YR 2012
UL http://www.ajnr.org/content/33/5/878.abstract
AB 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