{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T22:21:56Z","timestamp":1775254916690,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005622","name":"Health Research","doi-asserted-by":"publisher","award":["2017\/0351"],"award-info":[{"award-number":["2017\/0351"]}],"id":[{"id":"10.13039\/100005622","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Single\u2010center clinical series provide important information on genetic distribution that can guide genetic testing. However, there are few such studies on pediatric populations with inherited peripheral neuropathies (IPNs).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Thorough genetic testing was performed on IPN patients under 20\u00a0years of age from a geographically well\u2010defined Mediterranean area (Valencian Community, Spain), annually assessed with the Charcot\u2013Marie\u2013Tooth disease Pediatric Scale (CMTPedS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>From 86 families with IPNs, 99 patients (59 males) were identified, 85 with sensorimotor neuropathy or CMT (2\/3 demyelinating form) and 14 with distal hereditary motor neuropathy (dHMN). Genetic diagnosis was achieved in 79.5% families, with a similar mutation detection rate in the demyelinating (88.7%) and axonal (89.5%) forms, significantly higher than in the dHMN families (27.3%). CMT1A was the most common subtype, followed by those carrying heterozygous mutations in either the <jats:italic>GDAP1<\/jats:italic> or <jats:italic>GJB1<\/jats:italic> genes. Mutations in 15 other genes were identified, including a new pathogenic variant in the <jats:italic>ATP1A<\/jats:italic> gene. The CMTPedS detected significant disease progression in all genetic subtypes of CMT, at a rate of 1.84 (\u00b13.7) over 1\u00a0year (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.0005, <jats:italic>n<\/jats:italic>\u00a0=\u00a062) and a 2\u2010year rate of 3.6 (\u00b14.4: <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.0005, <jats:italic>n<\/jats:italic>\u00a0=\u00a045). Significant disease worsening was also detected for CMT1A over 1 (1.7\u00a0\u00b1\u00a03.6, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.05) and 2\u00a0years (4.2\u00a0\u00b1\u00a04.3, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.0005).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study highlights the unique spectrum of IPN gene frequencies among pediatric patients in this specific geographic region, identifying the CMTPedS as a sensitive tool to detect significant disease worsening over 1\u00a0year that could help optimize the design of clinical trials.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51432","type":"journal-article","created":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T07:38:59Z","timestamp":1627544339000},"page":"1809-1816","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Pediatric inherited peripheral neuropathy: a prospective study at a Spanish 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