{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T14:22:30Z","timestamp":1792592550818,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,9,23]],"date-time":"2014-09-23T00:00:00Z","timestamp":1411430400000},"content-version":"vor","delay-in-days":114,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked Charcot\u2010Marie\u2010Tooth type 1 (CMTX1) is the second most common type of CMT and is caused by mutations in the Gap\u2010Junction Beta\u20101 gene (<jats:italic>GJB1<\/jats:italic>), encoding connexin 32 which is expressed in Schwann cells as well as in oligodendrocytes. More than 400 <jats:italic>GJB1<\/jats:italic> mutations have been described to date. Many mutation\u2010carrier males have subclinical central nervous system (CNS) involvement, a few show mild CNS clinical signs, whereas only rarely overt though transient CNS dysfunction occurs. We report a 29\u2010year\u2010old man with CMTX1 who, at 16\u2009years, showed short\u2010lived CNS symptoms with transitory white matter abnormalities on cerebral magnetic resonance imaging (MRI) as first clinical presentation of a novel <jats:italic>GJB1<\/jats:italic> mutation (p.Gln99_His100insGln). He had three consecutive episodes of right hemiparesis, together with sensory loss in the paretic limbs and expressive aphasia, all lasting a few hours, over a 2\u2010day period, with concurrent white matter hyperintensity on MRI. These \u201cstroke\u2010like\u201d episodes occurred just after arriving at sea level, after travelling from home at 700\u2009m of altitude. Only a few years later did symptoms of peripheral neuropathy appear. In conclusion, CMTX1 should be included in the differential diagnosis of diseases characterized by transient CNS symptoms and white matter abnormalities on MRI.<\/jats:p>","DOI":"10.1111\/jns5.12070","type":"journal-article","created":{"date-parts":[[2014,5,26]],"date-time":"2014-05-26T10:16:49Z","timestamp":1401099409000},"page":"183-186","source":"Crossref","is-referenced-by-count":19,"title":["X\u2010linked Charcot\u2010Marie\u2010Tooth type 1: stroke\u2010like presentation of a novel <i><scp>GJB1<\/scp><\/i> mutation"],"prefix":"10.1111","volume":"19","author":[{"given":"Anna","family":"Sagnelli","sequence":"first","affiliation":[{"name":"Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Piscosquito","sequence":"additional","affiliation":[{"name":"Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Chiapparini","sequence":"additional","affiliation":[{"name":"Unit of Neuroradiology, Department of Diagnostic and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Ciano","sequence":"additional","affiliation":[{"name":"Neurophysiopathology and Epilepsy Centre, Department of Diagnostic and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ettore","family":"Salsano","sequence":"additional","affiliation":[{"name":"Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Saveri","sequence":"additional","affiliation":[{"name":"Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micaela","family":"Milani","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Technology IRCCS Foundation, \u201cC. 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