{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T09:18:22Z","timestamp":1787563102287,"version":"build-2736575974"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T00:00:00Z","timestamp":1583280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Intronic pentanucleotide insertion in the sterile alpha motif domain\u2010containing 12 gene was recently identified as the genetic cause of familial cortical myoclonic tremor with epilepsy type 1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>We thereafter conducted a multimodal MRI research to further understand familial cortical myoclonic tremor with epilepsy type 1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We enrolled 31 patients carrying heterozygous pathogenic intronic pentanucleotide insertion in the sterile alpha motif domain\u2010containing 12 gene and 31 age\u2010 and sex\u2010matched healthy controls. We compared multimodal MRI metrics, including voxel\u2010based morphometry, fractional anisotropy of diffuse tensor imaging, frequency\u2010dependent percent amplitude fluctuation, and seed\u2010based functional connectivity of resting\u2010state functional MRI.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Significant decreased gray matter volume was found in the cerebellum. Percent amplitude fluctuation analysis showed significant interaction effect of \u201cFrequency by Group\u201d in three regions, including the vermis VIII, left cerebellar lobule VIII, and left precentral gyrus. Specifically, the lowest\u2010frequency band exhibited significant increased percent amplitude fluctuation in patients in the two cerebellar subregions, whereas the highest\u2010frequency band exhibited decreased percent amplitude fluctuation in the precentral gyrus in patients. Discriminative analysis by support vector machine showed a mean accuracy of 82% (\n                      <jats:italic>P<\/jats:italic>\n                      = 1.0\n                      <jats:sup>\u20135<\/jats:sup>\n                      ). An increased functional connectivity between vermis VIII and the left precentral gyrus was found in patients with familial cortical myoclonic tremor with epilepsy type 1. A positive correlation between the percent amplitude fluctuation in the left cerebellar lobule VIII and duration of cortical tremor was also found.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The cerebellum showed both structural and functional damages. The distinct change of spontaneous brain activity, that is, increased ultra\u2010low\u2010frequency amplitude in the cerebellum and the decreased higher\u2010frequency amplitude in the motor cortex, might be a pathophysiological feature of familial cortical myoclonic tremor with epilepsy type 1. \u00a9 2020 International Parkinson and Movement Disorder Society<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.28014","type":"journal-article","created":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T09:01:03Z","timestamp":1583312463000},"page":"1012-1020","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Altered Cerebello\u2010Motor Network in Familial Cortical Myoclonic Tremor With Epilepsy Type 1"],"prefix":"10.1002","volume":"35","author":[{"given":"Bo","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology, the Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jue","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Cognition and Brain Disorders, Institutes of Psychological Sciences Hangzhou Normal University  Hangzhou Zhejiang China"},{"name":"Zhejiang Key Laboratory for Research in Assessment of Cognitive Impairments  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhidong","family":"Cen","sequence":"additional","affiliation":[{"name":"Department of Neurology, the Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wei","sequence":"additional","affiliation":[{"name":"Center for Cognition and Brain Disorders, Institutes of Psychological Sciences Hangzhou Normal University  Hangzhou Zhejiang China"},{"name":"Zhejiang Key Laboratory for Research in Assessment of 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