{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:15:10Z","timestamp":1787004910320,"version":"build-2736575974"},"reference-count":18,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Introduction\u2003Among the hereditary motor and sensory neuropathies (HMSN), demyelinating forms are the best characterized, with a clear predominance of CMT1A. The axonal and intermediate forms are less described. The aim of this study is to report the genetic diagnosis of Charcot-Marie-Tooth (CMT) according to the nerve conduction velocity (NCV) findings in a pediatric population.<\/jats:p>\n                  <jats:p>Methods\u2003We retrospectively described a population of HMSN children with a confirmed genetic diagnosis of demyelinated, intermediate, or axonal forms. We compared the results of the genetic analyses with those of motor NCV in median nerve according to whether they were below 25 m\/s (demyelinating group); between 25 and 45 m\/s (intermediate group), or above 45 m\/s (axonal group).<\/jats:p>\n                  <jats:p>Results\u2003Among the 143 children with an HMSN, 107 had a genetic diagnosis of which 61 had an electromyogram. On NCV findings: seven (11%) pertain to the axonal group, 20 (32%) to the intermediate group, and 34 (55%) to the demyelinating group. When NCV was above 45 m\/s, CMT2A was the predominant genetic diagnosis (70%) when NCV were below 25 m\/s, CMT1A was the predominant genetic diagnosis (71%). Intermediate NCV findings group was the more heterogeneous with seven genetic CMT subgroups (60% CMT1A, CMT1B, CMT1X, CMT2A, CMT2N, CMT4G).<\/jats:p>\n                  <jats:p>Conclusion\u2003Taking NCV values between 25 and 45 m\/s to define an intermediate group of CMT in children leads to the inclusion of non-typically \u201cintermediate\u201d, especially CMT1A. We emphasize the broad spectrum of NCV in CMT1A that justified the systematic search of PMP22 duplication\/deletion screening before next generation sequencing panel.<\/jats:p>","DOI":"10.1055\/s-0042-1743438","type":"journal-article","created":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T20:13:41Z","timestamp":1647461621000},"page":"182-187","source":"Crossref","is-referenced-by-count":2,"title":["Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population"],"prefix":"10.1055","volume":"53","author":[{"given":"Elo\u00efse","family":"Baudou","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, AOC (Atlantique-Occitanie-Cara\u00efbes) Reference Centre for Neuromuscular Diseases, H\u00f4pital des Enfants, CHU Toulouse, Toulouse Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Cances","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, AOC (Atlantique-Occitanie-Cara\u00efbes) Reference Centre for Neuromuscular Diseases, H\u00f4pital des Enfants, CHU Toulouse, Toulouse Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Magdelaine","sequence":"additional","affiliation":[{"name":"Service de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire Centre de Biologie et de Recherche en Sant\u00e9 CBRS, CHU de Limoges\u2014H\u00f4pital Dupuytren, Limoges, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Latour","sequence":"additional","affiliation":[{"name":"Centre de Biologie et Pathologie Est\u2014Service de Biochimie Biologie Mol\u00e9culaire Grand Est CHU de Lyon HCL \u2013 GH Est, Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike Walther","family":"Louvier","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, AOC (Atlantique-Occitanie-Cara\u00efbes) Reference Centers for Neuromuscular Diseases, CHU Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raul","family":"Juntas-morales","sequence":"additional","affiliation":[{"name":"Department of Neurology, AOC (Atlantique-Occitanie-Cara\u00efbes) Reference Centre for Neuromuscular Diseases, CHU Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Cintas","sequence":"additional","affiliation":[{"name":"Department of Neurology, AOC (Atlantique-Occitanie-Cara\u00efbes) Reference Centre for Neuromuscular Diseases, Pierre Paul Riquet Hospital, CHU Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Rivier","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, AOC (Atlantique-Occitanie-Cara\u00efbes) Reference Centers for Neuromuscular Diseases, CHU Montpellier, France"},{"name":"PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2022,3,16]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and clinical aspects of Charcot-Marie-Tooth's disease","volume":"6","author":"H Skre","year":"1974","journal-title":"Clin Genet"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"13","DOI":"10.3390\/genes5010013","article-title":"Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success","volume":"5","author":"V Timmerman","year":"2014","journal-title":"Genes"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1529-8027.2011.00324.x","article-title":"Charcot-Marie-Tooth disease","volume":"16","author":"M M Reilly","year":"2011","journal-title":"J Peripher Nerv Syst"},{"issue":"04","key":"ref4","first-page":"311","article-title":"The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. 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