{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T16:44:32Z","timestamp":1777653872464,"version":"3.51.4"},"reference-count":69,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T00:00:00Z","timestamp":1711497600000},"content-version":"vor","delay-in-days":86,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001595","name":"Dystonia Medical Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001595","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fonds de Dotation Brou de Lauri\u00e8re"},{"name":"Association des Malades atteints de Dystonie"},{"name":"Investissements d\u2019Avenir"},{"name":"Agence National de la Recherche"},{"name":"European Union\u2019s Horizon 2020 research and innovation"},{"name":"European Joint Programme on Rare Diseases"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Non-motor aspects in dystonia are now well recognized. The sense of agency, which refers to the experience of controlling one's own actions, has been scarcely studied in dystonia, even though its disturbances can contribute to movement disorders. Among various brain structures, the cerebral cortex, the cerebellum, and the basal ganglia are involved in shaping the sense of agency. In myoclonus dystonia, resulting from a dysfunction of the motor network, an altered sense of agency may contribute to the clinical phenotype of the condition. In this study, we compared the explicit and implicit sense of agency in patients with myoclonus dystonia caused by a pathogenic variant of SGCE (DYT-SGCE) and control participants. We utilized behavioural tasks to assess the sense of agency and performed neuroimaging analyses, including structural, resting-state functional connectivity, and dynamic causal modelling, to explore the relevant brain regions involved in the sense of agency. Additionally, we examined the relationship between behavioural performance, symptom severity, and neuroimaging findings. We compared 19 patients with DYT-SGCE and 24 healthy volunteers. Our findings revealed that patients with myoclonus-dystonia exhibited a specific impairment in explicit sense of agency, particularly when implicit motor learning was involved. However, their implicit sense of agency remained intact. These patients also displayed grey-matter abnormalities in the motor cerebellum, as well as increased functional connectivity between the cerebellum and pre-supplementary motor area. Dynamic causal modelling analysis further identified reduced inhibitory effects of the cerebellum on the pre-supplementary motor area, decreased excitatory effects of the pre-supplementary motor area on the cerebellum, and increased self-inhibition within the pre-supplementary motor area. Importantly, both cerebellar grey-matter alterations and functional connectivity abnormalities between the cerebellum and pre-supplementary motor area were found to correlate with explicit sense of agency impairment. Increased self-inhibition within the pre-supplementary motor area was associated with less severe myoclonus symptoms. These findings highlight the disruption of higher-level cognitive processes in patients with myoclonus-dystonia, further expanding the spectrum of neurological and psychiatric dysfunction already identified in this disorder.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae105","type":"journal-article","created":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T15:56:16Z","timestamp":1711554976000},"source":"Crossref","is-referenced-by-count":6,"title":["Association of abnormal explicit sense of agency with cerebellar impairment in myoclonus-dystonia"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5627-2126","authenticated-orcid":false,"given":"Cl\u00e9ment","family":"Tarrano","sequence":"first","affiliation":[{"name":"CNRS UMR 7225, Sorbonne Universit\u00e9, Paris Brain Institute\u2014Institut du Cerveau et de la Moelle \u00e9pini\u00e8re , Inserm U1127, Paris 75013 , France"},{"name":"Assistance Publique-H\u00f4pitaux de Paris, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of Neurology, Clinical Investigation Center for Neurosciences , Paris 75013 , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Gall\u00e9a","sequence":"additional","affiliation":[{"name":"CNRS UMR 7225, Sorbonne Universit\u00e9, Paris Brain Institute\u2014Institut du Cerveau et de la Moelle \u00e9pini\u00e8re , Inserm U1127, Paris 75013 , France"},{"name":"Department of Research Neuroimaging, Centre de NeuroImagerie de Recherche (CENIR), Sorbonne Universit\u00e9 , Paris 75013 , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Delorme","sequence":"additional","affiliation":[{"name":"CNRS UMR 7225, Sorbonne Universit\u00e9, Paris Brain Institute\u2014Institut du Cerveau et de la Moelle \u00e9pini\u00e8re , Inserm U1127, Paris 75013 , France"},{"name":"Assistance Publique-H\u00f4pitaux de Paris, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of Neurology, Clinical Investigation Center for Neurosciences , Paris 75013 , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eavan M","family":"McGovern","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beaumont Hospital , Dublin 9, D09 VY21 , Ireland"},{"name":"School of Medicine, Royal College of Surgeons in Ireland , Dublin 2, D02 YN77 , Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9499-3485","authenticated-orcid":false,"given":"Cyril","family":"Atkinson-Clement","sequence":"additional","affiliation":[{"name":"CNRS UMR 7225, Sorbonne Universit\u00e9, Paris Brain Institute\u2014Institut du Cerveau et de la Moelle \u00e9pini\u00e8re , Inserm U1127, Paris 75013 , France"},{"name":"School of Medicine, University of Nottingham , Nottingham NG7 2RD , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3875-0881","authenticated-orcid":false,"given":"Isaac Jarratt","family":"Barnham","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Cambridge , Cambridge CB2 0SZ , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Brochard","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of Neurology, Clinical Investigation Center for Neurosciences , Paris 75013 , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phane","family":"Thobois","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospices Civils de Lyon , Lyon 69000 , 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Hospital, Department of Neurology, Clinical Investigation Center for Neurosciences , Paris 75013 , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Degos","sequence":"additional","affiliation":[{"name":"Department of Neurology, Assistance Publique-H\u00f4pitaux de Paris, Avicenne Hospital, Sorbonne Paris Nord , Bobigny 93000 , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Christophe","family":"Corvol","sequence":"additional","affiliation":[{"name":"CNRS UMR 7225, Sorbonne Universit\u00e9, Paris Brain Institute\u2014Institut du Cerveau et de la Moelle \u00e9pini\u00e8re , Inserm U1127, Paris 75013 , France"},{"name":"Assistance Publique-H\u00f4pitaux de Paris, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of Neurology, Clinical Investigation Center for Neurosciences , Paris 75013 , 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