title: 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.
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.
authors: Department of Neuroradiology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Anna
authors: A
authors: Nigri
authors: Department of Neurophysiopathology, IRCCS Foundation C. Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy.
authors: Elisa
authors: E
authors: Visani
authors: Department of Neuroradiology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Nicola
authors: N
authors: Bertolino
authors: Genetics of Neurodegenerative and Metabolic Diseases Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Lorenzo
authors: L
authors: Nanetti
authors: Genetics of Neurodegenerative and Metabolic Diseases Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Caterina
authors: C
authors: Mariotti
authors: Genetics of Neurodegenerative and Metabolic Diseases Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Marta
authors: M
authors: Panzeri
authors: Department of Neuroradiology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Maria Grazia
authors: MG
authors: Bruzzone
authors: Department of Neurophysiopathology, IRCCS Foundation C. Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy.
authors: Silvana
authors: S
authors: Franceschetti
authors: Department of Neurophysiopathology, IRCCS Foundation C. Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy. laura.canafoglia@istituto-besta.it.
authors: Laura
authors: L
authors: Canafoglia
mesh_terms: D000328:Adult; D001284:Atrophy; D016022:Case-Control Studies; D002531:Cerebellum / Q000000981:diagnostic imaging* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D059907:Functional Neuroimaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000000981:diagnostic imaging* / Q000209:etiology / Q000503:physiopathology; D020194:Unverricht-Lundborg Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000503:physiopathology
keywords: Cerebellum; EPM1; Myoclonus; Progressive myoclonus epilepsy; Spinocerebellar ataxia; Unverricht-Lundborg disease