{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T12:21:44Z","timestamp":1783081304113,"version":"3.54.6"},"reference-count":20,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"BMBF","award":["01GM1511B"],"award-info":[{"award-number":["01GM1511B"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and usually manifests in the first two decades of life. However, prospective data on the natural course during childhood remain scarce.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This two-year, prospective, observational cohort study was conducted at two German pediatric neuromuscular centers. Annual standardized clinical assessments were performed. Sixty-eight pediatric patients with CMT (age range: 4\u201318 years; 35 females) were included. The primary outcome was the CMTPedS score, assessed at baseline and after a mean interval of 2.03 \u00b1 0.23 years. Changes in the 11 individual CMTPedS subitems were also analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The mean baseline CMTPedS score for the total cohort (n=68) was 20.5\u2009\u00b1\u20098.8. Stratified by genotype, mean scores were: CMT1A (n=31), 16.5\u2009\u00b1\u20097.6; CMT1B (n=6), 21.5\u2009\u00b1\u20099.4; CMT2A (n=4), 35.8\u2009\u00b1\u200910.0; CMT4C (n=4), 27.0\u2009\u00b1\u20093.7; CMTX (n=4), 24.3\u2009\u00b1\u200910.1); others (n=13), 24.6\u2009\u00b1\u20097.7; genetically unsolved (n=6), 19.8\u2009\u00b1\u20098.6. Over a two-year observation period, the mean change in CMTPedS was 0.0\u2009\u00b1\u20092.7, indicating overall no significant progression.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In this well-characterized cohort, overall disease course was non-progressive over two years\u2014most notably in CMT1A, the most prevalent subtype. CMT2A and CMT1B showed numerically greater changes, yet none reached statistical significance. These results emphasize the slow-progressive nature of pediatric CMT and highlight the limitations of using short-term clinical progression as an outcome measure in therapeutic trials.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602261450041","type":"journal-article","created":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T11:53:29Z","timestamp":1783079609000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1925-7538","authenticated-orcid":false,"given":"Katharina","family":"Vill","sequence":"first","affiliation":[{"name":"Ludwig-Maximilians-University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moritz","family":"Tacke","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"K\u00f6nig","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Senderek","sequence":"additional","affiliation":[{"name":"LMU Munich"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Hannibal","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie C.","family":"Walter","sequence":"additional","affiliation":[{"name":"LMU Munich"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Schlotter-Weigel","sequence":"additional","affiliation":[{"name":"LMU Munich"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Thiele","sequence":"additional","affiliation":[{"name":"LMU Munich"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Wagner","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moritz","family":"Netzer","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"M\u00fcller-Felber","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"Hobbiebrunken","sequence":"additional","affiliation":[{"name":"Georg August University G\u00f6ttingen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Blaschek","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,3]]},"reference":[{"key":"e_1_3_9_2_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes5010013"},{"key":"e_1_3_9_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2016.0171"},{"key":"e_1_3_9_4_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1723759"},{"key":"e_1_3_9_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308826"},{"key":"e_1_3_9_6_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1692982"},{"key":"e_1_3_9_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-024-01013-2"},{"key":"e_1_3_9_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003466"},{"key":"e_1_3_9_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25009"},{"key":"e_1_3_9_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23572"},{"key":"e_1_3_9_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003847"},{"key":"e_1_3_9_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13417"},{"key":"e_1_3_9_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1952-6"},{"key":"e_1_3_9_14_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1062264"},{"key":"e_1_3_9_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22166"},{"key":"e_1_3_9_16_2","doi-asserted-by":"publisher","DOI":"10.1097\/j.pain.0000000000002277"},{"key":"e_1_3_9_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26633"},{"key":"e_1_3_9_18_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.930435"},{"key":"e_1_3_9_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26518"},{"key":"e_1_3_9_20_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnhum.2022.914340"},{"key":"e_1_3_9_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-10220-0"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602261450041","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602261450041","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602261450041","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T11:53:30Z","timestamp":1783079610000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602261450041"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,3]]},"references-count":20,"alternative-id":["10.1177\/22143602261450041"],"URL":"https:\/\/doi.org\/10.1177\/22143602261450041","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,3]]},"article-number":"22143602261450041"}}