{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T18:32:23Z","timestamp":1781375543840,"version":"3.54.1"},"reference-count":47,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,9,13]],"date-time":"2017-09-13T00:00:00Z","timestamp":1505260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:bold>Background<\/jats:bold>: Mitochondrial disease can present as a movement disorder. Data on this entity's epidemiology, genetics, and underlying pathophysiology, however, is scarce.<\/jats:p><jats:p><jats:bold>Objective<\/jats:bold>: The objective of this study was to describe the clinical, genetic, and volumetric imaging data from patients with mitochondrial disease who presented with movement disorders.<\/jats:p><jats:p><jats:bold>Methods<\/jats:bold>: In this retrospective analysis of all genetically confirmed mitochondrial disease cases from three centers (n\u2009=\u200950), the prevalence and clinical presentation of video\u2010documented movement disorders was assessed. Voxel\u2010based morphometry from high\u2010resolution MRI was employed to compare cerebral and cerebellar gray matter volume between mitochondrial disease patients with and without movement disorders and healthy controls.<\/jats:p><jats:p><jats:bold>Results<\/jats:bold>: Of the 50 (30%) patients with genetically confirmed mitochondrial disease, 15 presented with hypokinesia (parkinsonism 3\/15), hyperkinesia (dystonia 5\/15, myoclonus 3\/15, chorea 2\/15), and ataxia (3\/15). In 3 patients, mitochondrial disease presented as adult\u2010onset isolated dystonia. In comparison to healthy controls and mitochondrial disease patients without movement disorders, patients with hypo\u2010 and hyperkinetic movement disorders had significantly more cerebellar atrophy and an atrophy pattern predominantly involving cerebellar lobules VI and VII.<\/jats:p><jats:p><jats:bold>Conclusion<\/jats:bold>: This series provides clinical, genetic, volumetric imaging, and histologic data that indicate major involvement of the cerebellum in mitochondrial disease when it presents with hyper\u2010 and hypokinetic movement disorders. As a working hypothesis addressing the particular vulnerability of the cerebellum to energy deficiency, this adds substantially to the pathophysiological understanding of movement disorders in mitochondrial disease. Furthermore, it provides evidence that mitochondrial disease can present as adult\u2010onset isolated dystonia. \u00a9 2017 International Parkinson and Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.27174","type":"journal-article","created":{"date-parts":[[2017,9,13]],"date-time":"2017-09-13T07:25:26Z","timestamp":1505287526000},"page":"146-155","source":"Crossref","is-referenced-by-count":32,"title":["Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum"],"prefix":"10.1002","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4129-5808","authenticated-orcid":false,"given":"Sebastian R.","family":"Schreglmann","sequence":"first","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology Queen Square London UK"},{"name":"Department of Neurology University Hospital Zurich Zurich Switzerland"},{"name":"Department of Neurology 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