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Genet."],"abstract":"<jats:p>X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a rare inherited neuropathy caused by mutations in the GJB1 gene, leading to progressive distal muscle weakness and atrophy. In this case study, a 37-year-old man presented with recurrent episodes of numbness involving the lips, right hand, and foot, followed by right-sided limb weakness and dysarthria four times over the past 20\u00a0years. Notably, the last three episodes were consistently triggered within 3\u00a0days after descent to sea level following exposure to high-altitude environments (8,500\u201310,000 feet, with transit above 13,000 feet). Based on the neurologic examination, brain magnetic resonance imaging (MRI), and genetic testing, the patient was diagnosed with X-linked Charcot-Marie-Tooth disease. This case underscores the importance of considering high-altitude exposure as a potential trigger and highlights the value of GJB1 testing in young patients presenting with acute stroke-like episodes and signs of peripheral neuropathy.<\/jats:p>","DOI":"10.3389\/fgene.2026.1769172","type":"journal-article","created":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T22:10:22Z","timestamp":1770847822000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease"],"prefix":"10.3389","volume":"17","author":[{"given":"Jing","family":"Zhong","sequence":"first","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuai","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"10548","DOI":"10.1523\/JNEUROSCI.23-33-10548.2003","article-title":"Pathogenesis of X-Linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32","volume":"23","author":"Abrams","year":"2003","journal-title":"J. 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