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The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied. MRI included diffusion acquisition using 64 directions, <jats:italic>b<\/jats:italic>\u2009=\u20093000\u2009s\/mm<jats:sup>2<\/jats:sup>. Fixel\u2010based analysis was used to identify white matter pathways with significant abnormality in structural connectivity, with subsequent tract segmentation and analysis. Region\u2010of\u2010interest and whole\u2010brain volumetric analysis of T1\u2010weighted images was performed. The relationship between structural connectivity measures and disease duration, and Unified Myoclonus Rating Scale was assessed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Analysis of structural connectivity revealed significantly reduced fiber density and fiber bundle cross\u2010section in white matter tracts in individuals with PME, with the most severe involvement of tracts within the cerebello\u2010thalamo\u2010cortical network, particularly the cerebello\u2010thalamic, thalamo\u2010cortical, cortico\u2010thalamic, and corticospinal tracts, as well as the splenium of the corpus callosum. By comparison with these abnormalities, cortico\u2010cortical association pathways were relatively preserved. There was reduced volume in the cerebellum, thalamus, brainstem, and mid\u2010anterior corpus callosum.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Individuals with PME have atrophy and changes in fiber tracts that predominantly affect the cerebello\u2010thalamic and motor systems, likely reflecting neuronal and axonal loss as part of a degenerative process. This imaging pattern is distinctive and accords well with the characteristic clinical, neuropathological, and neurophysiological features of the PMEs. The mechanism by which the PME genes affect these tracts is not yet known.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.70010","type":"journal-article","created":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T05:54:26Z","timestamp":1744350866000},"page":"1135-1143","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Progressive Myoclonus Epilepsy: Distinctive <scp>MRI<\/scp> Changes in Cerebellar and Motor Networks"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2175-5977","authenticated-orcid":false,"given":"Jillian M.","family":"Cameron","sequence":"first","affiliation":[{"name":"Epilepsy Research Centre, Department of Medicine University of Melbourne, Austin Health  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Remika","family":"Mito","sequence":"additional","affiliation":[{"name":"Florey Institute of Neuroscience and Mental Health  Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4580-841X","authenticated-orcid":false,"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre, Department of Medicine University of Melbourne, Austin Health  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme D.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Florey Institute of Neuroscience and Mental Health  Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198607313150506"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.03.013"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000641"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1969.tb01220.x"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0738-2"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1974.tb02782.x"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/61.12.1085"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/3059"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b3888b"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2023.103459"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.11.1686"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147475.71345.AA"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.1_Part_1.186"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.13122458"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2014.07.061"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2010.12.008"},{"key":"e_1_2_10_18_1","first-page":"361","article-title":"The Unified Myoclonus Rating Scale","volume":"89","author":"Frucht S. 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