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

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.

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Journal
Scientific Reports
Published
2024-09-27
DOI
https://doi.org/10.1038/s41598-024-73386-9
Citations
5
Primary Topic
Neurological disorders and treatments
Type
article
Field-Weighted Citation Impact
1.85

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article

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

Cécile Galléa, Jean‐Christophe Corvol, Marie Vidailhet, Yulia Worbe et al.
5 citations
Scientific Reports
Neurological disorders and treatments
1.85
article

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

Cécile Galléa, Jean‐Christophe Corvol, Marie Vidailhet, Yulia Worbe, Bertrand Degos, Christine Tranchant, Eavan M. McGovern, Emmanuelle Apartis, Cyril Atkinson-Clément, Stéphane Thobois, Adrian Degardin, Benoît Béranger, David Grabli, Cécile Delorme, Davide Martino, Jean Luc Houeto, Clément Tarrano, Emmanuel Roze, Luc Defebvre, Vanessa Brochard, Jean‐Michel Pedespan, Pierre Krystkowiak
article en
5 citations

Abstract

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.

Scientific ReportsVol. 14(1)
Université Claude Bernard Lyon 1 (FR), Abu Dhabi University (AE), Centre National de la Recherche Scientifique (FR), University of Nottingham (GB), Inserm (FR), University of Calgary (CA), Lyon College (US), Université de Lille (FR), Fondation de France (FR), Emirates Foundation (AE), Centre Hospitalier Universitaire de Lille (FR), Sorbonne Université (FR), Institut de génétique et de biologie moléculaire et cellulaire (FR), Université Sorbonne Paris Nord (FR), Assistance Publique – Hôpitaux de Paris (FR), Centre de Recherche Jean Pierre Aubert (FR), Hospices Civils de Lyon (FR), Hôpital Saint-Antoine (FR), Hôpital Pierre Wertheimer (FR), Société Française de Médecine Vasculaire (FR), Hôpital Pellegrin (FR), Fondation de l'Avenir (FR), St. Vincent's University Hospital (IE), Centre Hospitalier de Tourcoing (FR), Pitié-Salpêtrière Hospital (FR), Hôpital Avicenne (FR), Institut de Psychiatrie et Neurosciences de Paris (FR), Hôpital Universitaire Dupuytren (FR), Hôpitaux Universitaires de Strasbourg (FR), Laboratoire Paul Painlevé (FR), Institut d’Epidémiologie Neurologique et de Neurologie Tropicale (FR), Institut du Cerveau (FR), Institut des Sciences Cognitives (FR), Hôpital Civil, Strasbourg (FR), Institut de Recherche pour le Développement (FR), Institut d’Epidémiologie et de Neurologie Tropicale, Hotchkiss Brain Institute (CA), Université de Limoges (FR), Université de Strasbourg (FR), Abu Dhabi National Oil (United Arab Emirates) (AE)
Dystonia Medical Research Foundation, Amadys, European Commission
Good health and well-being
Openalex Percentile: Top 14%
Neurological disorders and treatments
1.85
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