Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients
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EPM1 (epilepsy, progressive myoclonic 1; Unverricht-Lundborg disease, OMIM #254800) is the most frequent form of progressive myoclonus epilepsy. Previous findings have suggested that its pathophysiology mainly involves the cerebellum, but the evaluation of cerebellar dysfunction is still unsatisfactory. The aim of this study was to assess the structural and functional involvement of the cerebellum in EPM1. We used voxel-based morphometry and spatially unbiased infra-tentorial template analyses of structural magnetic resonance imaging (MRI) scans, and functional MRI (fMRI) scans during block and event-related go/no-go motor tasks to study 13 EPM1 patients with mild to moderate myoclonus. We compared the results with those obtained in 12 age-matched healthy controls (HCs) and in 12 patients with hereditary spinocerebellar ataxia (SCA). Structural analyses revealed different patterns of atrophic changes in the EPM1 and SCA patients: in the former, they involved both cerebrum and cerebellum but, in the latter, only the cerebellum. During fMRI, block and event-related go/no-go tasks similarly activated the cerebellum and cerebrum in the EPM1 patients and HCs, whereas both tasks revealed much less cerebellar activation in the SCA patients than in the other two groups. Volumetric evaluation of the EPM1 patients showed that the cerebellum seemed to be marginally involved in a widespread atrophic process, and fMRI showed that it was not functionally impaired during motor tasks.
KeywordsProgressive myoclonus epilepsy EPM1 Unverricht-Lundborg disease Spinocerebellar ataxia Cerebellum Myoclonus
This study was partly supported by the Italian Ministry of Health, Grant RF-2011-02347420 (to CM).
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
This study was approved by the Ethics Committee of C. Besta Neurological Institute Foundation and carried out in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. All of the persons gave their informed consent before being included in the study. Any details that might reveal the identity of the study subjects have been omitted.
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