{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:02:18Z","timestamp":1783486938876,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T00:00:00Z","timestamp":1685923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2018\u201002532"],"award-info":[{"award-number":["2018\u201002532"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010663","name":"H2020 European Research Council","doi-asserted-by":"publisher","award":["101053962"],"award-info":[{"award-number":["101053962"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010663","name":"H2020 European Research Council","doi-asserted-by":"publisher","award":["681712"],"award-info":[{"award-number":["681712"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002565","name":"Alzheimer's Drug Discovery Foundation","doi-asserted-by":"publisher","award":["201809\u20102016862"],"award-info":[{"award-number":["201809\u20102016862"]}],"id":[{"id":"10.13039\/100002565","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Charcot\u2013Marie\u2013Tooth disease (CMT) is a hereditary, slowly progressive neuropathy. Currently, there are no effective pharmacological treatments or sensitive disease activity biomarkers available. The aim of this study was to demonstrate the change in plasma neurofilament light chain (NfL) over time in a CMT cohort and analyse the association between CMT severity and NfL level.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Initially, 101 CMT patients and 64 controls were enrolled in the study. Repeated evaluation was performed in 73 patients and 28 controls at a 3\u2010year interval. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Plasma NfL concentration was measured using the Simoa (single molecule array) NfL assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Plasma NfL concentration was increased in the CMT group compared with controls (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). Overall NfL level increased over the 3\u2010year interval in both CMT (<jats:italic>p<\/jats:italic>\u2009=\u20090.012) and control (<jats:italic>p<\/jats:italic>\u2009=\u20090.001) groups. However, in 22 of 73 CMT patients and seven of 28 controls, the NfL level decreased from the baseline. Analysing the association between 3\u2010year change in plasma NfL and disease severity (CMTNSv2), there was no correlation in the CMT group (<jats:italic>r<\/jats:italic>\u2009=\u20090.228, <jats:italic>p<\/jats:italic>\u2009=\u20090.052) or different CMT subgroups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study verifies increased plasma NfL concentrations in patients with CMT compared with controls. Longitudinal 3\u2010year data showed a variable change in NfL levels between CMT subtypes. There was no association between change in NfL over time and disease severity. These findings suggests that NfL is not a biomarker for CMT progression.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15858","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T06:09:11Z","timestamp":1683785351000},"page":"2453-2460","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Plasma neurofilament light chain level is not a biomarker of <scp>Charcot\u2013Marie\u2013Tooth<\/scp> disease progression: Results of 3\u2010year follow\u2010up study"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1983-6169","authenticated-orcid":false,"given":"Signe","family":"Setlere","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery Children's Clinical University Hospital  Riga Latvia"},{"name":"Department of Doctoral Studies Riga Stradins University  Riga 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London  London UK"},{"name":"Hong Kong Centre for Neurodegenerative Diseases Clear Water Bay  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktorija","family":"Kenina","sequence":"additional","affiliation":[{"name":"Department of Biology and Microbiology Riga Stradins University  Riga Latvia"},{"name":"Rare Disease Centre Riga East Clinical University Hospital  Riga 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