{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T12:12:45Z","timestamp":1790770365071,"version":"4.1.0"},"reference-count":67,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T00:00:00Z","timestamp":1617062400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Karlheinz-Hartmann-Stiftung (Hannover, Germany),  Ellen-Schmidt-Program (Hannover, Germany), Hermann and Lilly Schilling Stiftung f\u00fcr medizinische Forschung im Stifterverband,  German Research Foundation (FOR2488)","award":["Karlheinz-Hartmann-Stiftung (Hannover, Germany),  Ellen-Schmidt-Program (Hannover, Germany), Hermann and Lilly Schilling Stiftung f\u00fcr medizinische Forschung im Stifterverband,  German Research Foundation (FOR2488)"],"award-info":[{"award-number":["Karlheinz-Hartmann-Stiftung (Hannover, Germany),  Ellen-Schmidt-Program (Hannover, Germany), Hermann and Lilly Schilling Stiftung f\u00fcr medizinische Forschung im Stifterverband,  German Research Foundation (FOR2488)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Myoclonus-dystonia (DYT-SGCE, formerly DYT11) is characterized by alcohol-sensitive, myoclonic-like appearance of fast dystonic movements. It is caused by mutations in the SGCE gene encoding \u03b5-sarcoglycan leading to a dysfunction of this transmembrane protein, alterations in the cerebello-thalamic pathway and impaired striatal plasticity. To elucidate underlying pathogenic mechanisms, we investigated induced pluripotent stem cell (iPSC)-derived striatal medium spiny neurons (MSNs) from two myoclonus-dystonia patients carrying a heterozygous mutation in the SGCE gene (c.298T&gt;G and c.304C&gt;T with protein changes W100G and R102X) in comparison to two matched healthy control lines. Calcium imaging showed significantly elevated basal intracellular Ca2+ content and lower frequency of spontaneous Ca2+ signals in SGCE MSNs. Blocking of voltage-gated Ca2+ channels by verapamil was less efficient in suppressing KCl-induced Ca2+ peaks of SGCE MSNs. Ca2+ amplitudes upon glycine and acetylcholine applications were increased in SGCE MSNs, but not after GABA or glutamate applications. Expression of voltage-gated Ca2+ channels and most ionotropic receptor subunits was not altered. SGCE MSNs showed significantly reduced GABAergic synaptic density. Whole-cell patch-clamp recordings displayed elevated amplitudes of miniature postsynaptic currents and action potentials in SGCE MSNs. Our data contribute to a better understanding of the pathophysiology and the development of novel therapeutic strategies for myoclonus-dystonia.<\/jats:p>","DOI":"10.3390\/ijms22073565","type":"journal-article","created":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T09:57:04Z","timestamp":1617098224000},"page":"3565","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons"],"prefix":"10.3390","volume":"22","author":[{"given":"Anna","family":"Kutschenko","sequence":"first","affiliation":[{"name":"Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma","family":"Staege","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"},{"name":"Center for Systems Neuroscience, B\u00fcnteweg 2, 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8409-3918","authenticated-orcid":false,"given":"Karen","family":"Gr\u00fctz","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, Ratzeburger Allee 160, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannes","family":"Gla\u00df","sequence":"additional","affiliation":[{"name":"Translational Neurodegeneration Section \u201cAlbrecht-Kossel\u201c, Department of Neurology, University Medical Center, University of Rostock, Gehlsheimer Str. 20, 18147 Rostock, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norman","family":"Kalmbach","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Gschwendtberger","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"},{"name":"Center for Systems Neuroscience, B\u00fcnteweg 2, 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M.","family":"Henkel","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"},{"name":"Center for Systems Neuroscience, B\u00fcnteweg 2, 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanne","family":"Heine","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4179-2994","authenticated-orcid":false,"given":"Anne","family":"Gr\u00fcnewald","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, Ratzeburger Allee 160, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7364-7791","authenticated-orcid":false,"given":"Andreas","family":"Hermann","sequence":"additional","affiliation":[{"name":"Translational Neurodegeneration Section \u201cAlbrecht-Kossel\u201c, Department of Neurology, University Medical Center, University of Rostock, Gehlsheimer Str. 20, 18147 Rostock, Germany"},{"name":"German Center for Neurodegenerative Diseases Rostock\/Greifswald, 18147 Rostock, Germany"},{"name":"Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center, University of Rostock, 18147 Rostock, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Seibler","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, Ratzeburger Allee 160, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Wegner","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"},{"name":"Center for Systems Neuroscience, B\u00fcnteweg 2, 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/mds.22425","article-title":"Myoclonus-dystonia: An update","volume":"24","author":"Kinugawa","year":"2009","journal-title":"Mov. 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