{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T09:34:30Z","timestamp":1787564070935,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T00:00:00Z","timestamp":1647388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Although previous imaging studies have reported cerebellar gray matter loss in patients with familial cortical myoclonic tremor with epilepsy (FCMTE), the corresponding white matter alterations remain unknown. We investigated white matter structural changes in FCMTE1 and compared them with clinical and electrophysiological features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We enrolled 36 patients carrying heterozygous pathogenic intronic pentanucleotide insertions in the\n                      <jats:italic>SAMD12<\/jats:italic>\n                      \u00a0gene and 52 age\u2010 and sex\u2010matched healthy controls. Diffusion tensor imaging\u2010derived metrics, including fractional anisotropy, mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD), were calculated along with white matter voxel\u2010based morphometry (VBM) analysis. We also examined correlations between magnetic resonance metrics and clinical and electrophysiological features.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We detected widespread white matter reductions in MD, RD, and AD values in FCMTE1 patients, including in the commissural, projection, and association fibers. VBM analysis revealed that increases in white matter volume predominantly occurred in the right cerebellum and sagittal stratum. MD, RD, AD, and VBM analysis clearly indicated changes in the sagittal stratum. We found a positive correlation between VBM values in the right cerebellum and somatosensory\u2010evoked potential P25\u2013N33 amplitude. Decreased MD and AD values in the right sagittal stratum were detected in patients with versus without photophobia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>FCMTE is a network disorder involving a wide range of cortical and subcortical structures, including the cerebellum, thalamus, thalamocortical connections, and corticocortical connections. The right sagittal stratum is closely related with visual symptoms, especially photophobia. Our findings indicate that cerebellum and cortical hyperexcitability are closely linked, and emphasize the important role of the cerebellum in the pathophysiological mechanisms of cortical tremor.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/epi.17213","type":"journal-article","created":{"date-parts":[[2022,3,5]],"date-time":"2022-03-05T13:04:51Z","timestamp":1646485491000},"page":"1093-1103","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["White matter alterations in familial cortical myoclonic tremor with epilepsy type 1"],"prefix":"10.1111","volume":"63","author":[{"given":"Bo","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haotian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhidong","family":"Cen","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiachen","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dehao","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinhui","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurology Sir Run Run Shaw Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lebo","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyuan","family":"Ouyang","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Feng","family":"Zang","sequence":"additional","affiliation":[{"name":"Center for Cognition and Brain Disorders Institute of Psychological Sciences Hangzhou Normal University  Hangzhou China"},{"name":"Zhejiang Key Laboratory for Research in Assessment of Cognitive Impairments  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6951-7698","authenticated-orcid":false,"given":"Wei","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,16]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"1","article-title":"Familial cortical myoclonic tremor and epilepsy, an enigmatic disorder: from phenotypes to pathophysiology and genetics. 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