{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T05:08:46Z","timestamp":1780463326050,"version":"3.54.1"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:00:00Z","timestamp":1780444800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Adult-onset autosomal dominant leukodystrophy (ADLD) is an ultra-rare inherited white matter disorder caused by variants in the\n                      <jats:italic>LMNB1<\/jats:italic>\n                      gene. Here, we report a case of ADLD and characterize its typical magnetic resonance imaging (MRI) features, with the aim of facilitating its clinical recognition and differential diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description<\/jats:title>\n                    <jats:p>\n                      The patient was a 55-year-old male who had experienced incomplete voiding, dysuria, and constipation for 10\u202fyears. One year prior to presentation, he developed lower limb weakness and unsteady gait, which progressively worsened over time. Brain MRI revealed extensive white matter abnormalities, including a symmetric hyperintensity pattern in the brainstem corticospinal tract and bilateral middle cerebellar peduncles on T2-weighted\/FLAIR images, which resembled the facial profile of a Beagle dog. Subsequent genetic testing identified a pathogenic duplication of the\n                      <jats:italic>LMNB1<\/jats:italic>\n                      gene, a typical variant associated with ADLD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We report a case of ADLD caused by\n                      <jats:italic>LMNB1<\/jats:italic>\n                      duplication with a typical clinical course and characteristic MRI features. Its characteristic MRI features, including the \u201cBeagle sign\u201d as an illustrative imaging analogy in the brainstem, may facilitate the clinical recognition and differential diagnosis of this disorder.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fnins.2026.1821432","type":"journal-article","created":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T04:53:19Z","timestamp":1780462399000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Characteristic MRI pattern in LMNB1-related autosomal dominant leukodystrophy: a case report"],"prefix":"10.3389","volume":"20","author":[{"given":"Yu-Xin","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital","place":["Jinan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tong","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital","place":["Jinan, China"]},{"name":"Shandong Institute of Neuroimmunology","place":["Jinan, China"]},{"name":"Shandong Provincial Medicine and Health Key Laboratory of Neuroimmunology","place":["Jinan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Lin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital","place":["Jinan, China"]},{"name":"Shandong Institute of Neuroimmunology","place":["Jinan, China"]},{"name":"Shandong Provincial Medicine and Health Key Laboratory of Neuroimmunology","place":["Jinan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital","place":["Jinan, China"]},{"name":"Shandong Institute of Neuroimmunology","place":["Jinan, China"]},{"name":"Shandong Provincial Medicine and Health Key Laboratory of Neuroimmunology","place":["Jinan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui-Sheng","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital","place":["Jinan, China"]},{"name":"Shandong Institute of Neuroimmunology","place":["Jinan, China"]},{"name":"Shandong Provincial Medicine and Health Key Laboratory of Neuroimmunology","place":["Jinan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1080\/14737175.2020.1699060","article-title":"An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies","volume":"20","author":"Ashrafi","year":"2020","journal-title":"Expert. 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