{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T03:18:00Z","timestamp":1787800680015,"version":"build-2784847793"},"reference-count":74,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100018659","name":"Amadys","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["Horizon 2020 \u2010 EJP RD COFUND\u2010EJP N825 575\u2010EurDyscover"],"award-info":[{"award-number":["Horizon 2020 \u2010 EJP RD COFUND\u2010EJP N825 575\u2010EurDyscover"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100022554","name":"Institut du Cerveau et de la Moelle Epini\u00e8re","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100022554","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013116","name":"Merz Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013116","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2026,8]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Hyperkinetic movement disorders arise from dysfunction within cortico\u2013basal ganglia\u2013cerebellar loops. They frequently involve psychiatric and cognitive symptoms, reflecting impairment of both motor and non\u2010motor domains within these loops.\n ADCY5<\/jats:italic>\n (MxMD\u2010\n ADCY5<\/jats:italic>\n ) and\n SGCE<\/jats:italic>\n (MYC\/DYT\u2010\n SGCE<\/jats:italic>\n ) related movement disorders are childhood\u2010onset monogenic hyperkinetic conditions, both characterized by myoclonus, dystonia, and frequent psychiatric manifestations. Previous evidence suggests predominant basal ganglia involvement in MxMD\u2010\n ADCY5<\/jats:italic>\n and cerebellar involvement in MYC\/DYT\u2010\n SGCE<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n The aim was to determine how basal ganglia and cerebellar dysfunction drives cortical dysregulation in hyperkinetic movement disorders.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Resting\u2010state functional magnetic resonance imaging (fMRI) was used to examine effective connectivity in motor and non\u2010motor cortico\u2013basal ganglia\u2013cerebellar loops. Findings were validated using leave\u2010one\u2010out cross\u2010validation. Microstructural properties of regions within these loops were assessed with diffusion\u2010weighted imaging, using neurite orientation dispersion and density measures.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We enrolled 21 patients with MxMD\u2010\n ADCY5<\/jats:italic>\n , 24 with MYC\/DYT\u2010\n SGCE<\/jats:italic>\n , and matched healthy controls. Both patient groups exhibited elevated rates of psychiatric comorbidities. In MxMD\u2010\n ADCY5<\/jats:italic>\n , abnormal basal ganglia connectivity influenced the cerebellum, which in turn modulated cortical activity across motor and non\u2010motor loops. Reduced neurite density was observed in the subthalamic nucleus, a relay between basal ganglia and cerebellum. In MYC\/DYT\u2010\n SGCE<\/jats:italic>\n , the cerebellum showed predominant influence on cortical activity, with downstream modulation of basal ganglia activity, but no microstructural alterations were detected. Cross\u2010validation largely confirmed the connectivity patterns' reliability.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Abnormal cortical modulation in both disorders converges on a shared cerebellar\u2013cortical pathway, with basal ganglia influences in MxMD\u2010\n ADCY5<\/jats:italic>\n transmitted via the cerebellum to the cortex, and cerebellar contributions in MYC\/DYT\u2010\n SGCE<\/jats:italic>\n directly influencing the cortex. \u00a9 2026 The Author(s).\n Movement Disorders<\/jats:italic>\n published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mds.70337","type":"journal-article","created":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T04:50:18Z","timestamp":1777611018000},"page":"2155-2167","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Distinct Brain Drivers and Shared Cerebello\u2013Cortical Input in\n \n ADCY5<\/i>\n <\/scp>\n and\n \n SGCE<\/i>\n <\/scp>\n Hyperkinetic Movements"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5627-2126","authenticated-orcid":false,"given":"Cl\u00e9ment","family":"Tarrano","sequence":"first","affiliation":[{"name":"Sorbonne University, Paris Brain Institute \u2013 ICM, Inserm, CNRS, Assistance Publique\u2010H\u00f4pitaux de Paris, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Department of Clinical Neurophysiology, DMU Neurosciences Saint\u2010Antoine Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8070-8794","authenticated-orcid":false,"given":"C\u00e9cile","family":"Gall\u00e9a","sequence":"additional","affiliation":[{"name":"Sorbonne University, Paris Brain Institute \u2013 ICM, Inserm, CNRS, Assistance Publique\u2010H\u00f4pitaux de Paris, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Centre de NeuroImagerie de Recherche (CENIR) Sorbonne University, Paris Brain Institute \u2013 ICM, UMR S 975, CNRS UMR 7225, ICM Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asya","family":"Ekmen","sequence":"additional","affiliation":[{"name":"Sorbonne University, Paris Brain Institute \u2013 ICM, Inserm, CNRS, Assistance Publique\u2010H\u00f4pitaux de Paris, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Delorme","sequence":"additional","affiliation":[{"name":"Sorbonne University, Paris Brain Institute \u2013 ICM, Inserm, CNRS, Assistance Publique\u2010H\u00f4pitaux de Paris, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Department of Neurology, DMU Neurosciences Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eavan M.","family":"McGovern","sequence":"additional","affiliation":[{"name":"Department of Neurology Beaumont Hospital Dublin Ireland"},{"name":"School of Medicine Royal College of Surgeons in Ireland Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Salardaine","sequence":"additional","affiliation":[{"name":"Department of Neurology Fondation Adolphe de Rothschild Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Daghsen","sequence":"additional","affiliation":[{"name":"Sorbonne University, Paris Brain Institute \u2013 ICM, Inserm, CNRS, Assistance Publique\u2010H\u00f4pitaux de Paris, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manon","family":"Gomes","sequence":"additional","affiliation":[{"name":"Sorbonne University, 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