{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T21:53:08Z","timestamp":1757627588627,"version":"3.44.0"},"reference-count":37,"publisher":"BMJ","funder":[{"name":"International Centre for Genomic Medicine","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Neurol Neurosurg Psychiatry"],"accepted":{"date-parts":[[2025,6,15]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Biallelic <jats:italic>SH3TC2<\/jats:italic> variants lead to autosomal recessive Charcot\u2010Marie\u2010Tooth type 4C (CMT4C) which is typically demyelinating and associated with early-onset spinal deformities. Electrophysiology typically reveals a non-uniform conduction velocity (CV) slowing, a pattern traditionally linked to inflammatory neuropathies, potentially leading to diagnostic misinterpretation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective and Methods<\/jats:title>\n                  <jats:p>Clinical and neurophysiological data from 19 patients belonging to 16 unrelated families with confirmed CMT4C were retrospectively collected across six neuromuscular reference centres in Brazil.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Among the 19 patients, consanguineous parentage was found in 11 patients. Most patients exhibited symptom onset before age 10, and difficulty walking was the most common presenting symptom. A high rate of initial misdiagnosis was noted, with six patients initially diagnosed as inflammatory neuropathy. Proximal muscle weakness since initial assessment, present in 13 patients, and non-uniform CV slowing, present in all patients, contributed to this diagnostic misinterpretation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This is the largest Brazilian cohort of patients with CMT4C to date. Key findings include frequent non-uniform CV slowing, excessive temporal dispersion and a high rate of misdiagnosis, often as acquired demyelinating neuropathy. Clinicians should be aware of the distinctive neurophysiological pattern of SH3TC2-related neuropathy to avoid misdiagnosis, unnecessary ancillary tests and treatment.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jnnp-2025-336458","type":"journal-article","created":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T04:35:39Z","timestamp":1757478939000},"page":"jnnp-2025-336458","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies"],"prefix":"10.1136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4325-3414","authenticated-orcid":false,"given":"Rodrigo Siqueira Soares","family":"Frezatti","sequence":"first","affiliation":[{"name":"Department of Neurosciences and Behavioural Sciences, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, Ribeir\u00e3o Preto, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1485-3771","authenticated-orcid":false,"given":"Pedro Jos\u00e9","family":"Tomaselli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behavioural Sciences, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, Ribeir\u00e3o Preto, S\u00e3o Paulo, Brazil"},{"name":"National Institute of Sciences and Technology Translational Medicine (INCT), Ribeirao Preto, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manoella Guerra de Albuquerque","family":"Bueno","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behavioural Sciences, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, Ribeir\u00e3o Preto, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9946-6032","authenticated-orcid":false,"given":"Fabricio Diniz","family":"de Lima","sequence":"additional","affiliation":[{"name":"Department of Neurology, State University of Campinas, Campinas, Brazil"},{"name":"Department of Neurology, Federal Fluminense University, Niter\u00f3i, Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9590-435X","authenticated-orcid":false,"given":"Camila Castelo Branco","family":"Pupe","sequence":"additional","affiliation":[{"name":"Department of Neurology, Federal Fluminense University, Niter\u00f3i, Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diogo Fernandes","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Department of Neurology, Federal University of Uberl\u00e2ndia, Uberl\u00e2ndia, Minas Gerais, 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