Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex.

Autor: Tarrano C; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France.; Department of Neurology, Clinical Investigation Center for Neurosciences, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.; Department of Neurophysiology, Saint-Antoine Hospital, Paris, France., Galléa C; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France.; Centre de NeuroImagerie de Recherche (CENIR), Sorbonne Université, UMR S 975, CNRS UMR 7225, ICM, Paris, F-75013, France., Delorme C; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France.; Department of Neurology, Clinical Investigation Center for Neurosciences, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France., McGovern EM; Department of Neurology, St Vincent's University Hospital Dublin, Dublin, Ireland., Atkinson-Clement C; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France.; School of Medicine, University of Nottingham, Nottingham, UK., Brochard V; Department of Neurology, Clinical Investigation Center for Neurosciences, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France., Thobois S; Department of Neurology, Hospices Civils de Lyon, Pierre Wertheimer Neurological Hospital, Expert Parkinson Center NS-PARK/FCRIN, Bron, France.; Marc Jeannerod Cognitive Neuroscience Institute, CNRS, UMR 5229, Bron, France.; University of Lyon, Université Claude Bernard Lyon 1, Faculté de Médecine et de Maïeutique Lyon Sud Charles Mérieux, Oullins, France., Tranchant C; Département of Neurology, Universitary Hospital of Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM- U964/CNRS-UMR7104/ University of Strasbourg, Illkirch, France.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France., Grabli D; Department of Neurology, Clinical Investigation Center for Neurosciences, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France., Degos B; Department of Neurology, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Paris Nord, Bobigny, France., Corvol JC; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France.; Department of Neurology, Clinical Investigation Center for Neurosciences, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France., Pedespan JM; Department of Neuropediatry, Universitary Hospital of Pellegrin, Bordeaux, France., Krystkowiak P; Abu Dhabi Stem Cells Centre, Abu Dhabi, United Arab Emirates., Houeto JL; Department of Neurology CHU Limoges, EpiMaCT - Epidemiology of chronic diseases in tropical zone, Institute of Epidemiology and Tropical Neurology, Inserm U1094, IRD U270, Univ. Limoges, OmegaHealth, Limoges, France., Degardin A; Department of Neurology, Tourcoing Hospital, Tourcoing, France., Defebvre L; Troubles cognitifs dégénératifs et vasculaires, Lille, F-59000, France.; Lille Centre of Excellence for Neurodegenerative Diseases (LiCEND), University of Lille, CHU Lille, INSERM, Lille, U1172, F-59000, France., Beranger B; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France.; Centre de NeuroImagerie de Recherche (CENIR), Sorbonne Université, UMR S 975, CNRS UMR 7225, ICM, Paris, F-75013, France., Martino D; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada., Apartis E; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France.; Department of Neurophysiology, Saint-Antoine Hospital, Paris, France., Vidailhet M; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France.; Department of Neurology, Clinical Investigation Center for Neurosciences, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France., Roze E; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France.; Department of Neurology, Clinical Investigation Center for Neurosciences, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France., Worbe Y; Paris Brain Institute, Sorbonne University - ICM, Inserm CNRS, Paris, F-75013, France. yulia.worbe@aphp.fr.; Department of Neurology, Clinical Investigation Center for Neurosciences, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France. yulia.worbe@aphp.fr.; Department of Neurophysiology, Saint-Antoine Hospital, Paris, France. yulia.worbe@aphp.fr.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2024 Sep 27; Vol. 14 (1), pp. 22341. Date of Electronic Publication: 2024 Sep 27.
DOI: 10.1038/s41598-024-73386-9
Abstrakt: Psychiatric symptoms are common in neurodevelopmental movement disorders, including some types of dystonia. However, research has mainly focused on motor manifestations and underlying circuits. Myoclonus-dystonia is a rare and homogeneous neurodevelopmental condition serving as an illustrative paradigm of childhood-onset dystonias, associated with psychiatric symptoms. Here, we assessed the prevalence of psychiatric disorders and the severity of depressive symptoms in patients with myoclonus-dystonia and healthy volunteers (HV). Using resting-state functional neuroimaging, we compared the effective connectivity within and among non-motor and motor brain networks between patients and HV. We further explored the hierarchical organization of these networks and examined the relationship between their connectivity and the depressive symptoms. Comparing 19 patients to 25 HV, we found a higher prevalence of anxiety disorders and more depressive symptoms in the patient group. Patients exhibited abnormal modulation of the cerebellum on the cerebral cortex in the sensorimotor, dorsal attention, salience, and default mode networks. Moreover, the salience network activity was directed by the cerebellum in patients and was related to depressive symptoms. Altogether, our findings highlight the role of the cerebellar drive on both motor and non-motor cortical areas in this disorder, suggesting cerebellar involvement in the complex phenotype of such neurodevelopmental movement disorders.
(© 2024. The Author(s).)
Databáze: MEDLINE
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