Microstructure of the cerebellum and its afferent pathways underpins dystonia in myoclonus dystonia

Author:

Tarrano Clément123ORCID,Zito Giuseppe4,Galléa Cécile15,Delorme Cécile12,McGovern Eavan M.67,Atkinson‐Clement Cyril18ORCID,Brochard Vanessa2,Thobois Stéphane910,Tranchant Christine111213,Grabli David12,Degos Bertrand14,Corvol Jean Christophe12,Pedespan Jean‐Michel15,Krystkowiak Pierre16,Houeto Jean‐Luc17,Degardin Adrian18,Defebvre Luc1920,Didier Mélanie15,Valabrègue Romain15,Apartis Emmanuelle13,Vidailhet Marie12,Roze Emmanuel12,Worbe Yulia123ORCID

Affiliation:

1. Paris Brain Institute, INSERM, CNRS Sorbonne Université Paris France

2. Department of Neurology, Clinical Investigation Center for Neurosciences Assistance Publique‐Hôpitaux de Paris, Pitié‐Salpêtrière Hospital Paris France

3. Department of Clinical Neurophysiology Saint‐Antoine Hospital Paris France

4. Swiss Paraplegic Research Nottwil Switzerland

5. Paris Brain Institute, Centre de NeuroImagerie de Recherche, UMRS 975, CNRS UMR 7225 Sorbonne Université Paris France

6. Department of Neurology Beaumont Hospital Dublin Ireland

7. School of Medicine Royal College of Surgeons in Ireland Dublin Ireland

8. School of Medicine University of Nottingham Nottingham UK

9. Neurological Department C Hopital Neurologique Pierre Wertheimer, Hospices Civils de Lyon Bron France

10. Faculté de Medecine Lyon Sud Charles Mérieux Université Claude Bernard Lyon 1 Lyon France

11. Département de Neurologie Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre Strasbourg France

12. Institut de Génétique et de Biologie Moléculaire et Cellulaire INSERM U964/CNRS UMR7104, Université de Strasbourg Illkirch France

13. Fédération de Médecine Translationnelle de Strasbourg Université de Strasbourg Strasbourg France

14. Department of Neurology Assistance Publique‐Hôpitaux de Paris, Avicenne Hospital, Sorbonne Paris Nord Bobigny France

15. Department of Neuropediatry University Hospital of Pellegrin Bordeaux France

16. Abu Dhabi Stem Cells Center Abu Dhabi UAE

17. Department of Neurology, Centre Hospitalier Universitaire de Limoges, INSERM U1094, IRD U270, Epidemiology of Chronic Diseases in Tropical Zone, Institute of Epidemiology and Tropical Neurology, OmegaHealth University of Limoges Limoges France

18. Department of Neurology Tourcoing Hospital Tourcoing France

19. Centre Hospitalier Universitaire de Lille, INSERM U1172, Troubles Cognitifs Dégénératifs et Vasculaires University of Lille Lille France

20. Lille Center of Excellence for Neurodegenerative Diseases Lille France

Abstract

AbstractBackground and PurposeMyoclonus dystonia due to a pathogenic variant in SGCE (MYC/DYT‐SGCE) is a rare condition involving a motor phenotype associating myoclonus and dystonia. Dysfunction within the networks relying on the cortex, cerebellum, and basal ganglia was presumed to underpin the clinical manifestations. However, the microarchitectural abnormalities within these structures and related pathways are unknown. Here, we investigated the microarchitectural brain abnormalities related to the motor phenotype in MYC/DYT‐SGCE.MethodsWe used neurite orientation dispersion and density imaging, a multicompartment tissue model of diffusion neuroimaging, to compare microarchitectural neurite organization in MYC/DYT‐SGCE patients and healthy volunteers (HVs). Neurite density index (NDI), orientation dispersion index (ODI), and isotropic volume fraction (ISOVF) were derived and correlated with the severity of motor symptoms. Fractional anisotropy (FA) and mean diffusivity (MD) derived from the diffusion tensor approach were also analyzed. In addition, we studied the pathways that correlated with motor symptom severity using tractography analysis.ResultsEighteen MYC/DYT‐SGCE patients and 24 HVs were analyzed. MYC/DYT‐SGCE patients showed an increase of ODI and a decrease of FA within their motor cerebellum. More severe dystonia was associated with lower ODI and NDI and higher FA within motor cerebellar cortex, as well as with lower NDI and higher ISOVF and MD within the corticopontocerebellar and spinocerebellar pathways. No association was found between myoclonus severity and diffusion parameters.ConclusionsIn MYC/DYT‐SGCE, we found microstructural reorganization of the motor cerebellum. Structural change in the cerebellar afferent pathways that relay inputs from the spinal cord and the cerebral cortex were specifically associated with the severity of dystonia.

Funder

Amadys

Dystonia Medical Research Foundation

Fondation pour la Recherche Médicale

Publisher

Wiley

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3