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26.10.2016 | Original Paper

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

verfasst von: Anna Nigri, Elisa Visani, Nicola Bertolino, Lorenzo Nanetti, Caterina Mariotti, Marta Panzeri, Maria Grazia Bruzzone, Silvana Franceschetti, Laura Canafoglia

Erschienen in: Brain Topography | Ausgabe 3/2017

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Abstract

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.

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Titel: 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
verfasst von: Anna Nigri
Elisa Visani
Nicola Bertolino
Lorenzo Nanetti
Caterina Mariotti
Marta Panzeri
Maria Grazia Bruzzone
Silvana Franceschetti
Laura Canafoglia
Publikationsdatum: 26.10.2016
Verlag: Springer US
Erschienen in: Brain Topography / Ausgabe 3/2017
Print ISSN: 0896-0267
Elektronische ISSN: 1573-6792
DOI: https://doi.org/10.1007/s10548-016-0534-y

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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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