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We have completed a longitudinal natural history study in patients with\n MPZ<\/jats:italic>\n neuropathies across 13 sites of the Inherited Neuropathies Consortium.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Change in Charcot\u2013Marie\u2013Tooth Examination Score (CMTES) and Rasch modified CMTES (CMTES\u2010R) were evaluated using longitudinal regression over a 5\u2010year period in subjects with\n MPZ<\/jats:italic>\n neuropathy. Data from 139 patients with\n MPZ<\/jats:italic>\n neuropathy were examined.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The average baseline CMTES and CMTES\u2010R were 10.84 (standard deviation [SD]\u00a0=\u20096.0, range\u00a0=\u00a00\u201328) and 14.60 (SD\u00a0=\u00a07.56, range\u00a0=\u00a00\u201332), respectively. A mixed regression model showed significant change in CMTES at years 2\u20135 (mean change from baseline of 0.87 points at 2\u2009years,\n p<\/jats:italic>\n \u00a0=\u20090.008). Subgroup analysis revealed greater change in CMTES at 2\u2009years in subjects with axonal as compared to demyelinating neuropathy (mean change of 1.30 points [\n p<\/jats:italic>\n \u00a0=\u20090.016] vs 0.06 points [\n p<\/jats:italic>\n \u00a0=\u20090.889]). Patients with a moderate baseline neuropathy severity also showed more notable change, by estimate, than those with mild or severe neuropathy (mean 2\u2010year change of 1.14 for baseline CMTES 8\u201314 [\n p<\/jats:italic>\n \u00a0=\u20090.025] vs \u22120.03 for baseline CMTES 0\u20137 [\n p<\/jats:italic>\n \u00a0=\u20090.958] and 0.25 for baseline CMTES \u2265\u200915 [\n p<\/jats:italic>\n \u00a0=\u20090.6897]). The progression in patients harboring specific\n MPZ<\/jats:italic>\n mutations was highly variable.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n \n CMTES is sensitive to change over time in adult patients with axonal but not demyelinating forms of\n MPZ<\/jats:italic>\n neuropathy. Change in CMTES was greatest in patients with moderate baseline disease severity. These findings will inform future clinical trials of\n MPZ<\/jats:italic>\n neuropathies. ANN NEUROL 2023;93:563\u2013576\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ana.26518","type":"journal-article","created":{"date-parts":[[2022,10,7]],"date-time":"2022-10-07T01:41:27Z","timestamp":1665106887000},"page":"563-576","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Disease Progression in Charcot\u2013Marie\u2013Tooth Disease Related to\n \n MPZ<\/i>\n <\/scp>\n Mutations: A Longitudinal Study"],"prefix":"10.1002","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0068-8549","authenticated-orcid":false,"given":"Vera","family":"Fridman","sequence":"first","affiliation":[{"name":"Department of Neurology University of Colorado Denver Aurora CO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Sillau","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Colorado Denver Aurora CO 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