{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T23:37:25Z","timestamp":1773358645464,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T00:00:00Z","timestamp":1553731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>EGR2 (Early Growth Response 2) is one of the most important transcription factors involved in myelination in the peripheral nervous system. <jats:italic>EGR2<\/jats:italic> mutations typically cause different forms of demyelinating neuropathy, that is, Charcot\u2010Marie\u2010Tooth type 1D (CMT1D), Dejerine\u2010Sottas Syndrome (DSS), and Congenital Hypomyelinating Neuropathy (CHN). However, the <jats:italic>EGR2<\/jats:italic> gene has been recently associated with an axonal phenotype (CMT2) in a large CMT family. Here, we report another CMT family exhibiting an axonal phenotype associated with a missense change (c.1235A&gt;G, p.E412G) in the <jats:italic>EGR2<\/jats:italic> gene. Neurological evaluation of five affected members of the family showed a classical CMT phenotype including distal muscle atrophy and weakness, absence of deep tendon reflexes, pes cavus, and scoliosis. Electrophysiological examination was consistent with a motor\u2010sensory axonal neuropathy. Sural nerve biopsy performed in one patient showed a loss of myelinated and unmyelinated nerve fibers without de\u2010remyelinating signs and onion bulbs. This study confirms the phenotypical heterogeneity of <jats:italic>EGR2\u2010<\/jats:italic>related neuropathy, indicating a role for EGR2 in primary axonal degeneration.<\/jats:p>","DOI":"10.1111\/jns.12314","type":"journal-article","created":{"date-parts":[[2019,3,7]],"date-time":"2019-03-07T02:50:14Z","timestamp":1551927014000},"page":"219-223","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A novel family with axonal Charcot\u2010Marie\u2010Tooth disease caused by a mutation in the <i>EGR2<\/i> gene"],"prefix":"10.1111","volume":"24","author":[{"given":"Stefano","family":"Tozza","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Magri","sequence":"additional","affiliation":[{"name":"Department of Diagnostics and Technology, Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena Maria","family":"Pennisi","sequence":"additional","affiliation":[{"name":"Neurology Unit San Filippo Neri Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Schirinzi","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Pisciotta","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Balistreri","sequence":"additional","affiliation":[{"name":"Department of Diagnostics and Technology, Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Severi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Ricci","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[{"name":"Department of Diagnostics 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