{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T19:48:23Z","timestamp":1761767303245,"version":"3.41.2"},"reference-count":6,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T00:00:00Z","timestamp":1708905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Charcot\u2212Marie\u2212Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38\u2009m\/s. Two unrelated patients with motor NCVs in the upper limbs above 38\u2009m\/s are reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Case report.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two genetically confirmed CMT1A patients are presented, from two unrelated families (one of British origin and the other of Brazilian origin). Both individuals had upper limb motor NCVs above 38\u2009m\/s, with values ranging from 41.9 to 45\u2009m\/s in the median nerve and from 42 to 42.3\u2009m\/s in the ulnar nerve. They presented with a very mild phenotype, with CMT Neuropathy Score version 2 (CMTNSv2) of 6 and 5, respectively. In contrast, affected family members within both kinships exhibited a classical phenotype with more severe disease manifestation (CMTNSv2 ranging from 12 to 20) and motor NCVs below 30\u2009m\/s.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These cases, although very rare, highlight the importance of testing <jats:italic>PMP22<\/jats:italic> duplication in patients with intermediate conduction velocities.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16199","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T06:45:25Z","timestamp":1709016325000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Intermediate conduction velocity in two cases of Charcot\u2212Marie\u2212Tooth disease type <scp>1A<\/scp>"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1485-3771","authenticated-orcid":false,"given":"Pedro Jos\u00e9","family":"Tomaselli","sequence":"first","affiliation":[{"name":"Clinical Hospital of Ribeir\u00e3o Preto, Department of Neurosciences and Behaviour Sciences University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Blake","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London UK"},{"name":"Department of Clinical Neurophysiology Norfolk and Norwich University Hospital  Norwich UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James M.","family":"Polke","sequence":"additional","affiliation":[{"name":"UCLH Neurogenetics Laboratory National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osvaldo Jos\u00e9 Moreira","family":"do Nascimento","sequence":"additional","affiliation":[{"name":"Neurology Department of Fluminense Federal University (UFF)  Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0686-905X","authenticated-orcid":false,"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5821-4042","authenticated-orcid":false,"given":"Wilson","family":"Marques\u00a0J\u00fanior","sequence":"additional","affiliation":[{"name":"Clinical Hospital of Ribeir\u00e3o Preto, Department of Neurosciences and Behaviour Sciences University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8264-8676","authenticated-orcid":false,"given":"Matilde","family":"Laur\u00e1","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,26]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"853","article-title":"Molecular analyses of unrelated Charcot\u2212Marie\u2212Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication","volume":"53","author":"Wise CA","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.4.1061"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.9.1806"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.5.1508"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22166"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25426"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.16199","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T04:43:25Z","timestamp":1712551405000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.16199"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,26]]},"references-count":6,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1111\/ene.16199"],"URL":"https:\/\/doi.org\/10.1111\/ene.16199","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"type":"print","value":"1351-5101"},{"type":"electronic","value":"1468-1331"}],"subject":[],"published":{"date-parts":[[2024,2,26]]},"assertion":[{"value":"2023-09-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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