{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T14:04:41Z","timestamp":1781273081581,"version":"3.54.1"},"reference-count":11,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Mult Scler"],"abstract":"\n Background:<\/jats:title>\n \n Area postrema syndrome (APS) is a core feature of neuromyelitis optica spectrum disorder (NMOSD). Charcot\u2013Marie\u2013Tooth disease type 1X (CMT1X), caused by gap junction protein beta-1 (\n GJB1<\/jats:italic>\n ) mutations, can rarely involve the central nervous system (CNS).\n <\/jats:p>\n <\/jats:sec>\n \n Objectives:<\/jats:title>\n To report a case of CMT1X presenting with APS mimicking NMOSD.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n Clinical, electrophysiological, radiological, and genetic evaluations were performed.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n A 43-year-old woman experienced intractable hiccups, nausea, and a dorsal medullary lesion. Genetic testing revealed a pathogenic\n GJB1<\/jats:italic>\n p.Arg22Gln variant. The lesion resolved, and she remained relapse-free without maintenance immunotherapy.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n GJB1<\/jats:italic>\n -related disorders should be considered in patients with episodic CNS symptoms, particularly when accompanied by features of hereditary neuropathy, to avoid misdiagnosis.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/13524585261436692","type":"journal-article","created":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T05:51:31Z","timestamp":1781070691000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Reversible area postrema syndrome in a patient with\n GJB1<\/i>\n mutation mimicking neuromyelitis optica spectrum disorder"],"prefix":"10.1177","author":[{"given":"Po-Chia","family":"Cheng","sequence":"first","affiliation":[{"name":"Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2899-1136","authenticated-orcid":false,"given":"Yuan-Ting","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan; Department of Medical Genomics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,6,9]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4824-11.2011"},{"key":"e_1_3_2_3_2","volume-title":"GJB1 disorders: Charcot-Marie-Tooth neuropathy (CMT1X) and Central Nervous System Phenotypes","author":"Abrams CK","year":"1993","unstructured":"Abrams CK, Adam MP, Bick S, et al. GJB1 disorders: Charcot-Marie-Tooth neuropathy (CMT1X) and Central Nervous System Phenotypes. Seattle, WA: University of Washington, 1993."},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2016.5441"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-024-03667-3"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep40166"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2019.03.018"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2008.12.031"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000186032.06791.94"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.73.3.304"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.01406"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12211"}],"container-title":["Multiple Sclerosis Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585261436692","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/13524585261436692","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585261436692","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T13:47:40Z","timestamp":1781272060000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/13524585261436692"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,9]]},"references-count":11,"alternative-id":["10.1177\/13524585261436692"],"URL":"https:\/\/doi.org\/10.1177\/13524585261436692","relation":{},"ISSN":["1352-4585","1477-0970"],"issn-type":[{"value":"1352-4585","type":"print"},{"value":"1477-0970","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,9]]},"article-number":"13524585261436692"}}