{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T14:22:29Z","timestamp":1792592549132,"version":"4.5.0"},"reference-count":25,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2013,2,11]],"date-time":"2013-02-11T00:00:00Z","timestamp":1360540800000},"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":["J Child Neurol"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:p>We describe 2 patients with X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) disease and central nervous system manifestations and review 19 cases from the literature. Our first case had not been previously diagnosed with Charcot-Marie-Tooth disease, and the second case, although known to have Charcot-Marie-Tooth disease, was suspected of having CMTX1 after presentation with central nervous system manifestations. The most common central nervous system manifestations were transient and included dysarthria, ataxia, hemiparesis, and tetraparesis resembling periodic paralysis. Of the 21 patients, 19 presented at 21 years of age or younger, implicating CMTX1 with transient central nervous system manifestations as a disorder that predominantly affects children and adolescents. CMTX1 should be included in the differential diagnosis of patients who present with transient central nervous system phenomena, including stroke-like episodes, tetraparesis suggestive of periodic paralysis, dysarthria, ataxia, or combinations of these deficits. Reversible, bilateral, nonenhancing white matter lesions and restricted diffusion on magnetic resonance imaging are characteristic features of the central nervous system phenotype of CMTX1.<\/jats:p>","DOI":"10.1177\/0883073812474343","type":"journal-article","created":{"date-parts":[[2013,2,11]],"date-time":"2013-02-11T20:46:48Z","timestamp":1360615608000},"page":"342-348","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":47,"title":["The Central Nervous System Phenotype of X-Linked Charcot-Marie-Tooth Disease"],"prefix":"10.1177","volume":"29","author":[{"given":"Majeed","family":"Al-Mateen","sequence":"first","affiliation":[{"name":"Mary Bridge Children\u2019s Hospital and Health Center, Tacoma, WA, USA"},{"name":"Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA"},{"name":"Division of Neurology, Seattle Children\u2019s Hospital, Seattle, WA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexa Kanwit","family":"Craig","sequence":"additional","affiliation":[{"name":"Division of Neurology, Seattle Children\u2019s Hospital, Seattle, WA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip F.","family":"Chance","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Genetics), University of Washington school of Medicine, Seattle, WA, 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