Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic Movements.
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Tarrano Clément, Galléa Cécile, Ekmen Asya, Delorme Cécile, McGovern Eavan M, Salardaine Quentin, Daghsen Lina, Gomes Manon, Brochard Vanessa, Mulroy Eoin, Bhatia Kailash P, Fusco Carlo, Carecchio Miryam, Brüggemann Norbert, Münchau Alexander, Gonzalez Victoria, Doummar Diane, Tranchant Christine, Anheim Mathieu, Damier Philippe, Riant Florence, Doulazmi Mohamed, Roubertie Agathe, Dubacq Caroline, Trouillard Oriane, Valabregue Romain, Didier Mélanie, Beranger Benoit, Pouget Pierre, Vidailhet Marie, Meunier Sabine, Méneret Aurélie, Worbe Yulia, Roze Emmanuel
Аннотация
OBJECTIVES: The aim was to determine how basal ganglia and cerebellar dysfunction drives cortical dysregulation in hyperkinetic movement disorders.
METHODS: Resting-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.
RESULTS: We 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.
CONCLUSION: Abnormal 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.