{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:03:27Z","timestamp":1779930207059,"version":"3.53.1"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,6,18]],"date-time":"2023-06-18T00:00:00Z","timestamp":1687046400000},"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":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in the <jats:italic>Early\u2010Growth Response 2<\/jats:italic> (<jats:italic>EGR2<\/jats:italic>) gene cause various hereditary neuropathies, including demyelinating Charcot\u2013Marie\u2010Tooth (CMT) disease type 1D (CMT1D), congenital hypomyelinating neuropathy type 1 (CHN1), D\u00e9jerine\u2013Sottas syndrome (DSS), and axonal CMT (CMT2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we identified 14 patients with heterozygous <jats:italic>EGR2<\/jats:italic> mutations diagnosed between 2000 and 2022.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mean age was 44\u2009years (15\u201370), 10 patients were female (71%), and mean disease duration was 28\u2009years (1\u201356). Disease onset was before age 15\u2009years in nine cases (64%), after age 35\u2009years in four cases (28%), and one patient aged 26\u2009years was asymptomatic (7%). All symptomatic patients had <jats:italic>pes cavus<\/jats:italic> and distal lower limbs weakness (100%). Distal lower limbs sensory symptoms were observed in 86% of cases, hand atrophy in 71%, and scoliosis in 21%. Nerve conduction studies showed a predominantly demyelinating sensorimotor neuropathy in all cases (100%), and five patients needed walking assistance after a mean disease duration of 50\u2009years (47\u201356) (36%). Three patients were misdiagnosed as inflammatory neuropathy and treated with immunosuppressive drugs for years before diagnosis was corrected. Two patients presented with an additional neurologic disorder, including Steinert's myotonic dystrophy and spinocerebellar ataxia (14%). Eight <jats:italic>EGR2<\/jats:italic> gene mutations were found, including four previously undescribed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation.<\/jats:title><jats:p>Our findings demonstrate <jats:italic>EGR2<\/jats:italic> gene\u2010related hereditary neuropathies are rare and slowly progressive demyelinating neuropathies with two major clinical presentations, including a childhood\u2010onset variant and an adult\u2010onset variant which may mimic inflammatory neuropathy. Our study also expands the genotypic spectrum of <jats:italic>EGR2<\/jats:italic> gene mutations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.12572","type":"journal-article","created":{"date-parts":[[2023,6,12]],"date-time":"2023-06-12T15:10:09Z","timestamp":1686582609000},"page":"359-367","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp><i>EGR2<\/i><\/scp> gene\u2010linked hereditary neuropathies present with a bimodal age distribution at symptoms onset"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1012-9783","authenticated-orcid":false,"given":"Andoni","family":"Echaniz\u2010Laguna","sequence":"first","affiliation":[{"name":"Neurology Department, APHP, CHU de Bic\u00eatre  Le Kremlin\u2010Bic\u00eatre France"},{"name":"French National Reference Centre for Rare Neuropathies (CERAMIC)  Le Kremlin\u2010Bic\u00eatre France"},{"name":"INSERM U1195, Paris\u2010Saclay University  Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Cauquil","sequence":"additional","affiliation":[{"name":"Neurology Department, APHP, CHU de Bic\u00eatre  Le Kremlin\u2010Bic\u00eatre France"},{"name":"French National Reference Centre for Rare Neuropathies (CERAMIC)  Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Baptiste","family":"Chanson","sequence":"additional","affiliation":[{"name":"Department of Neurology and Nord\/Est\/Ile de France Neuromuscular Reference Center H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Tard","sequence":"additional","affiliation":[{"name":"U1172, Department of Neurology, CHU de Lille Centre de r\u00e9f\u00e9rence des maladies neuromusculaires Nord\/Est\/Ile\u2010de\u2010France  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Guyant\u2010Marechal","sequence":"additional","affiliation":[{"name":"Department of Genetics, CHU de Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Kuntzer","sequence":"additional","affiliation":[{"name":"Nerve\u2010Muscle unit, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV) and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8864-6775","authenticated-orcid":false,"given":"Ioana Maria","family":"Ion","sequence":"additional","affiliation":[{"name":"Department of Neurology CHU de Nimes  Nimes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sophie","family":"Lia","sequence":"additional","affiliation":[{"name":"Centre Hospitalo\u2010Universitaire (CHU) Limoges, Service de Biochimie et de 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