{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T23:46:50Z","timestamp":1783122410298,"version":"3.54.6"},"reference-count":10,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T00:00:00Z","timestamp":1273795200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:p>X-linked hereditary demyelinating neuropathy (Charcot-Marie-Tooth 1X) accounts for 10% to 20% of all hereditary demyelinating neuropathies and is caused by mutations in the GJB1 gene, which codes for connexin 32. Connexin 32 is a gap junction protein widely expressed in Schwann cells as well as oligodendrocytes. Transient leukoencephalopathy has been reported in children and adults with Charcot-Marie-Tooth 1X. The case of a previously healthy 10-year-old boy who presented with fluctuating neurological deficits is reviewed. His brain magnetic resonance imaging scans showed abnormal restricted diffusion and mild hyperintense T2-weighted and fluid attenuation inversion recovery abnormalities in the splenium of the corpus callosum and the posterior cerebral white matter in a bilaterally symmetric distribution. A family history of Charcot-Marie-Tooth disease was revealed late in his presentation, and genetic testing identified a mutation in the GJB1 gene that has not previously been associated with central nervous system involvement.<\/jats:p>","DOI":"10.1177\/0883073809352378","type":"journal-article","created":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T22:41:59Z","timestamp":1273876919000},"page":"1013-1016","source":"Crossref","is-referenced-by-count":17,"title":["Transient Leukoencephalopathy Associated With X-Linked Charcot-Marie-Tooth Disease"],"prefix":"10.1177","volume":"25","author":[{"given":"Tena","family":"Rosser","sequence":"first","affiliation":[{"name":"Division of Neurology, Childrens Hospital Los Angeles, and Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, California,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Muir","sequence":"additional","affiliation":[{"name":"Division of Neurology, University of Southern California Keck School of Medicine, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Panigrahy","sequence":"additional","affiliation":[{"name":"Division of Radiology, Childrens Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin E.","family":"Baldwin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, Los Angeles, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard G.","family":"Boles","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and The Saban Research Institute, Childrens Hospital Los Angeles, Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,5,14]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.6.923"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2008.12.031"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.4.605"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10305"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000095960.48964.25"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.10.1906"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1002\/glia.20043"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000186032.06791.94"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.66.6.803"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-0173(99)00082-X"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809352378","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809352378","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:33Z","timestamp":1777494933000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073809352378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5,14]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["10.1177\/0883073809352378"],"URL":"https:\/\/doi.org\/10.1177\/0883073809352378","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,5,14]]}}}