{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T10:11:42Z","timestamp":1779185502603,"version":"3.51.4"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T00:00:00Z","timestamp":1778025600000},"content-version":"vor","delay-in-days":125,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["TOP 2018\/91218013"],"award-info":[{"award-number":["TOP 2018\/91218013"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Myoclonus-dystonia is a hyperkinetic movement disorder, and approximately half of myoclonus-dystonia patients have a mutation in the epsilon-sarcoglycan (SGCE) gene, while the remaining cases often have undetermined causative genes. This study aims to assess brain metabolic function in myoclonus-dystonia patients with and without SGCE mutations and compare them with a control group. This study is part of the Next Move in Movement Disorders observational study. We included 23 myoclonus-dystonia patients (11 with SGCE mutations and 12 without) and 23 age-matched controls. Participants underwent 18-fluordeoxyglucose-PET and anatomical MRI scans. Data were analysed using a voxel-based analysis and a volume of interest (VOI)\u2013based analysis. In the voxel-based analyses, trends towards differences in the supplementary motor area, cingulate gyrus, parietal and occipital lobe were found. When comparing mutation-positive with mutation-negative patients, trends towards differences in the parietal lobe and pre-central gyrus were detected. Symptom severity was correlated with changed metabolism in post-central and supramarginal gyrus, occipital and frontal lobe, cerebellum and caudate nucleus. In addition, VOI-based analyses showed statistically significant differences in the supplementary motor area comparing myoclonus-dystonia patients with controls. The identified trends of increased metabolism in the (pre)motor cortex areas fit the model of a more \u2018excitable\u2019 state with a lower activation threshold, possibly due to reduced inhibition from the cerebellum and striatum, regions in which we found a negative correlation between symptom severity and metabolism. Differences were also observed in sensory areas such as the parietal lobe and visual cortex. While the phenotype of SGCE mutation-positive and mutation-negative groups is similar, subtle differences suggest distinct endophenotypes.<\/jats:p>","DOI":"10.1093\/braincomms\/fcag131","type":"journal-article","created":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T11:33:06Z","timestamp":1777980786000},"source":"Crossref","is-referenced-by-count":0,"title":["An 18-fluorodeoxyglucose-PET study in\n                    <i>SGCE<\/i>\n                    positive and negative myoclonus-dystonia"],"prefix":"10.1093","volume":"8","author":[{"given":"Elze R","family":"Timmers","sequence":"first","affiliation":[{"name":"Department of Neurology, University Medical Center Groningen, University of Groningen , Groningen 9713 GZ ,","place":["the Netherlands"]},{"name":"Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG) , Groningen, Groningen 9713 GZ ,","place":["The Netherlands"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-4014-1854","authenticated-orcid":false,"given":"Henri\u00ebtte C J","family":"Dijkhuis","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Groningen, University of Groningen , Groningen 9713 GZ ,","place":["the Netherlands"]},{"name":"Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG) , Groningen, Groningen 9713 GZ ,","place":["The Netherlands"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramesh S","family":"Marapin","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Groningen, University of Groningen , Groningen 9713 GZ ,","place":["the Netherlands"]},{"name":"Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG) , Groningen, Groningen 9713 GZ ,","place":["The Netherlands"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6568-5739","authenticated-orcid":false,"given":"Bauke M","family":"de Jong","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Groningen, University of Groningen , Groningen 9713 GZ ,","place":["the Netherlands"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3033-8817","authenticated-orcid":false,"given":"D\u00e9bora E","family":"Peretti","sequence":"additional","affiliation":[{"name":"Clinical Neuroimaging HUG, Hopitaux Universitaires de Gen\u00e8ve , 1211 Gen\u00e8ve ,","place":["Switzerland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8580-5358","authenticated-orcid":false,"given":"Jelle R","family":"Dalenberg","sequence":"additional","affiliation":[{"name":"Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG) , Groningen, Groningen 9713 GZ ,","place":["The Netherlands"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5783-571X","authenticated-orcid":false,"given":"Marina A J","family":"Tijssen","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Groningen, University of Groningen , Groningen 9713 GZ ,","place":["the Netherlands"]},{"name":"Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG) , Groningen, Groningen 9713 GZ ,","place":["The Netherlands"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,5,6]]},"reference":[{"key":"2026051905552479000_fcag131-B1","volume-title":"SGCE myoclonus-dystonia","author":"Raymond","year":"1993"},{"issue":"4","key":"2026051905552479000_fcag131-B2","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1111\/ene.12650","article-title":"Isolated and combined dystonia syndromes - an update on new genes and their phenotypes","volume":"22","author":"Balint","year":"2015","journal-title":"Eur J Neurol"},{"issue":"13","key":"2026051905552479000_fcag131-B3","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1212\/01.wnl.0000297516.98574.c0","article-title":"Myoclonus\u2013dystonia","volume":"70","author":"Roze","year":"2008","journal-title":"Neurology"},{"issue":"1","key":"2026051905552479000_fcag131-B4","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/ng709","article-title":"Mutations in the gene encoding \u03b5-sarcoglycan cause myoclonus-dystonia syndrome","volume":"29","author":"Zimprich","year":"2001","journal-title":"Nat Genet"},{"issue":"2","key":"2026051905552479000_fcag131-B5","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/humu.9521","article-title":"Myoclonus-dystonia: Significance of large SGCE deletions","volume":"29","author":"Gr\u00fcnewald","year":"2008","journal-title":"Hum Mutat"},{"issue":"12","key":"2026051905552479000_fcag131-B6","doi-asserted-by":"crossref","first-page":"2296","DOI":"10.1007\/s00415-014-7488-3","article-title":"SGCE and myoclonus dystonia: Motor characteristics, diagnostic criteria and clinical predictors of genotype","volume":"261","author":"Peall","year":"2014","journal-title":"J Neurol"},{"issue":"6","key":"2026051905552479000_fcag131-B7","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1136\/jnnp.2008.162099","article-title":"Myoclonus-dystonia: Clinical and genetic evaluation of a large cohort","volume":"80","author":"Ritz","year":"2009","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"8","key":"2026051905552479000_fcag131-B8","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1136\/jnnp-2011-301386","article-title":"Cognition and psychopathology in myoclonus-dystonia","volume":"83","author":"Van Tricht","year":"2012","journal-title":"J Neurol Neurosurg 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