Evidence map›Paper›PMID 42063207›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2026

Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic Movements.

Clément Tarrano, Cécile Galléa, Asya Ekmen, Cécile Delorme, Eavan M McGovern, Quentin Salardaine, Lina Daghsen, Manon Gomes, Vanessa Brochard, Eoin Mulroy and 24 more

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Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

34 authors.

Clément TarranoSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.ORCID https://orcid.org/0000-0001-5627-2126
Cécile GalléaSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.ORCID https://orcid.org/0000-0001-8070-8794
Asya EkmenSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Cécile DelormeSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Eavan M McGovernDepartment of Neurology, Beaumont Hospital, Dublin, Ireland.
Quentin SalardaineDepartment of Neurology, Fondation Adolphe de Rothschild Hospital, Paris, France.
Lina DaghsenSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Manon GomesSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Vanessa BrochardSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Eoin MulroyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Kailash P BhatiaDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Carlo FuscoChild and Adolescent Neuropsychiatry Unit, Department of Maternal and Child Health, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Miryam CarecchioParkinson and Movement Disorders Unit, Department of Neuroscience, University of Padova, Padua, Italy.ORCID https://orcid.org/0000-0002-0755-5477
Norbert BrüggemannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Alexander MünchauInstitute of Systems Motor Science, University of Lübeck, CBBM, Lübeck, Germany.ORCID https://orcid.org/0000-0002-3219-2284
Victoria GonzalezDepartment of Neurology, Vall d'Hebron University Hospital, Barcelona, Spain.
Diane DoummarDepartment of Pediatric Neurology and Developmental Pathology, Neurogenetics Reference Center, Trousseau Hospital, FHU I2-D2, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.
Christine TranchantDepartment of Neurology, University Hospital of Strasbourg, Hautepierre Hospital, Strasbourg, France.
Mathieu AnheimDepartment of Neurology, University Hospital of Strasbourg, Hautepierre Hospital, Strasbourg, France.
Philippe DamierDepartment of Neurology, Universitary Hospital of Nantes, Nantes, France.ORCID https://orcid.org/0000-0003-3869-0564
Florence RiantDepartment of Medical Genetics, Molecular and Cellular Neurogenetics Unit, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Mohamed DoulazmiSorbonne University, CNRS, INSERM, NeuroSU, Paris, France.
Agathe RoubertieDepartment of Pediatric Neurology, Montpellier University Hospital, Montpellier, France.
Caroline DubacqSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Oriane TrouillardSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.ORCID https://orcid.org/0000-0003-0228-0942
Romain ValabregueSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Mélanie DidierSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Benoit BerangerSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.ORCID https://orcid.org/0000-0003-0704-9854
Pierre PougetSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Marie VidailhetSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.ORCID https://orcid.org/0000-0002-2409-9143
Sabine MeunierSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Aurélie MéneretSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.ORCID https://orcid.org/0000-0002-7623-1142
Yulia WorbeSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
Emmanuel RozeSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.ORCID https://orcid.org/0000-0001-9727-3459

Funding

ADCY5.orgAmadysEuropean Union Horizon 2020 - EJP RD COFUND-EJP N825 575-EurDyscoverFondation pour la Recherche MédicaleInstitut du Cerveau et de la Moelle EpinièreMerz Pharmaceuticals
6 · The paper itself

Abstract

backgroundHyperkinetic movement disorders arise from dysfunction within cortico-basal ganglia-cerebellar loops. They frequently involve psychiatric and cognitive symptoms, reflecting impairment of both motor and non-motor domains within these loops. ADCY5 (MxMD-ADCY5) and SGCE (MYC/DYT-SGCE) related movement disorders are childhood-onset monogenic hyperkinetic conditions, both characterized by myoclonus, dystonia, and frequent psychiatric manifestations. Previous evidence suggests predominant basal ganglia involvement in MxMD-ADCY5 and cerebellar involvement in MYC/DYT-SGCE.

objectivesThe aim was to determine how basal ganglia and cerebellar dysfunction drives cortical dysregulation in hyperkinetic movement disorders.

methodsResting-state functional magnetic resonance imaging (fMRI) was used to examine effective connectivity in motor and non-motor cortico-basal ganglia-cerebellar loops. Findings were validated using leave-one-out cross-validation. Microstructural properties of regions within these loops were assessed with diffusion-weighted imaging, using neurite orientation dispersion and density measures.

resultsWe enrolled 21 patients with MxMD-ADCY5, 24 with MYC/DYT-SGCE, and matched healthy controls. Both patient groups exhibited elevated rates of psychiatric comorbidities. In MxMD-ADCY5, abnormal basal ganglia connectivity influenced the cerebellum, which in turn modulated cortical activity across motor and non-motor loops. Reduced neurite density was observed in the subthalamic nucleus, a relay between basal ganglia and cerebellum. In MYC/DYT-SGCE, the cerebellum showed predominant influence on cortical activity, with downstream modulation of basal ganglia activity, but no microstructural alterations were detected. Cross-validation largely confirmed the connectivity patterns' reliability.

conclusionAbnormal cortical modulation in both disorders converges on a shared cerebellar-cortical pathway, with basal ganglia influences in MxMD-ADCY5 transmitted via the cerebellum to the cortex, and cerebellar contributions in MYC/DYT-SGCE directly influencing the cortex. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

Basal GangliaCerebellumCerebral CortexDystonic DisordersHyperkinesisMovement DisordersAdenylyl CyclasesAdultFemaleHumansMagnetic Resonance ImagingMaleNeural PathwaysYoung AdultAdenylyl Cyclasesadenylyl cyclase type VDWIdystoniafMRImovement disordersmyoclonus

Identifiers

PMID42063207
PMCPMC13518282

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