{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:47:14Z","timestamp":1748306834805,"version":"3.40.4"},"reference-count":38,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"content-version":"vor","delay-in-days":21,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Charcot-Marie-Tooth (CMT) disease is a genetically diverse group of hereditary neuropathies. Most studies on the frequency of CMT subtypes report that the early growth response 2 (EGR2) gene accounts for less than 1% of cases. However, data regarding the epidemiology and clinical characteristics of EGR2-related CMT in Central and South America remain limited.<\/jats:p><jats:p>\n          Objective\u2003To characterize the clinical and genetic features of EGR2-related CMT in a Brazilian cohort.<\/jats:p><jats:p>\n          Methods\u2003We retrospectively analyzed clinical and ancillary data from four individuals with confirmed molecular diagnosis of EGR2-related CMT. Patients were categorized based on age of onset, motor nerve conduction velocity of the ulnar nerve, and nerve biopsy findings when available. Next-generation sequencing was utilized for genetic analysis.<\/jats:p><jats:p>\n          Results\u2003Pathogenic and likely pathogenic variants were identified exclusively in the three zinc-finger domains of EGR2, including a novel variant, c.1234G\u2009&gt;\u2009C (p.Glu412Gln). Patients exhibited significant variation in clinical severity and phenotypes. Dysphagia, respiratory complications, and scoliosis were prominent features.<\/jats:p><jats:p>\n          Conclusion\u2003Our findings corroborate the complex and varied clinical presentations of EGR2-related CMT, highlighting respiratory issues and dysphagia as significant features. Comprehensive clinical assessment and early genetic diagnosis are essential for managing this condition's diverse phenotypic spectrum.<\/jats:p>","DOI":"10.1055\/s-0045-1806820","type":"journal-article","created":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T00:32:39Z","timestamp":1745368359000},"page":"001-008","source":"Crossref","is-referenced-by-count":1,"title":["Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort"],"prefix":"10.1055","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7763-7745","authenticated-orcid":false,"given":"Eduardo Boiteux Uch\u00f4a","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o, Ambulat\u00f3rio de Reabilita\u00e7\u00e3o Neurol\u00f3gica, Bras\u00edlia DF, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0615-0777","authenticated-orcid":false,"given":"Savana Camilla de Lima","family":"Santos","sequence":"additional","affiliation":[{"name":"Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o, Labotat\u00f3rio de Patologia Molecular, Bras\u00edlia DF, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7479-4489","authenticated-orcid":false,"given":"Christian Marques","family":"Couto","sequence":"additional","affiliation":[{"name":"Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o, Ambulat\u00f3rio de Reabilita\u00e7\u00e3o Neurol\u00f3gica, Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7033-7775","authenticated-orcid":false,"given":"Galeno Vieira","family":"Rocha","sequence":"additional","affiliation":[{"name":"Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o, Ambulat\u00f3rio de Reabilita\u00e7\u00e3o Neurol\u00f3gica, Fortaleza CE, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3485-3057","authenticated-orcid":false,"given":"Maria Cristina Del Negro Barroso","family":"Freitas","sequence":"additional","affiliation":[{"name":"Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o, Ambulat\u00f3rio de Reabilita\u00e7\u00e3o Neurol\u00f3gica, Bras\u00edlia DF, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3516-485X","authenticated-orcid":false,"given":"Osvaldo Jos\u00e9 Moreira do","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Universidade Federal Fluminense, Hospital Universit\u00e1rio Ant\u00f4nio Pedro, Niter\u00f3i RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"issue":"05","key":"ref1","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1136\/jnnp-2011-30028","article-title":"Charcot-Marie-Tooth disease in Northern England","volume":"83","author":"C Foley","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"05","key":"ref2","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1159\/000065643","article-title":"An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan","volume":"21","author":"S Kurihara","year":"2002","journal-title":"Neuroepidemiology"},{"issue":"05","key":"ref3","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1159\/000065642","article-title":"Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study","volume":"21","author":"C 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