{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T21:07:43Z","timestamp":1792789663457,"version":"4.5.0"},"reference-count":45,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP22ek0109474"],"award-info":[{"award-number":["JP22ek0109474"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP25ek0109619"],"award-info":[{"award-number":["JP25ek0109619"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of Health and Welfare of Japan","award":["24FC1009"],"award-info":[{"award-number":["24FC1009"]}]},{"DOI":"10.13039\/501100009438","name":"National Center for Neurology and Psychiatry","doi-asserted-by":"crossref","award":["5-5"],"award-info":[{"award-number":["5-5"]}],"id":[{"id":"10.13039\/501100009438","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects the central nervous system. Despite previous studies, blood-based biomarkers have not been sufficiently characterized. This study investigated plasma neurofilament light chain (NfL), phosphorylated tau (p-tau181), amyloid-\u03b2 (A\u03b242\/40), and glial fibrillary acidic protein (GFAP) in a Japanese cohort with DM1 to assess their potential as biomarkers. Methods: Forty patients with genetically confirmed DM1 were enrolled in this study. Plasma NfL, p-tau181, A\u03b242\/40, and GFAP were quantified using single-molecule array technology. Clinical and genetic variables, including age, CTG repeat size, Mini-Mental State Examination (MMSE) score, modified Rankin Scale (mRS) score, and creatine kinase levels, were analyzed for correlations. Results: NfL and p-tau181 were significantly elevated in patients with DM1 compared with controls, with 95% exceeding the p-tau181 cut-off. NfL was moderately correlated with age, age at onset, and mRS, and no significant associations were observed between p-tau181 and other biomarkers, although a correlation was noted with serum creatine kinase. Conclusions: These findings support that NfL is a marker of disease severity in DM1 and identified plasma p-tau181 as a potential novel biomarker. While the mechanisms underlying the increased p-tau181 levels remain unclear, they may reflect DM1-related pathologies in the brain and possibly in skeletal muscle. Study limitations include a small sample size and lack of age-matched controls, highlighting the need for longitudinal validation. This study demonstrates the utility of NfL and suggests that p-tau181 is an emerging biomarker for DM1, supporting future work toward biomarker-guided monitoring and therapeutic evaluation.<\/jats:p>","DOI":"10.3390\/jcm14228197","type":"journal-article","created":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T12:55:31Z","timestamp":1763556931000},"page":"8197","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Plasma Neurofilament Light Chain and Phosphorylated Tau Are Elevated in Myotonic Dystrophy Type 1"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5513-5012","authenticated-orcid":false,"given":"Masanori P.","family":"Takahashi","sequence":"first","affiliation":[{"name":"Clinical Neurophysiology, Department of Clinical Laboratory and Biomedical Sciences, The University of Osaka Graduate School of Medicine, Yamadaoka, Suita 565-0871, Osaka, Japan"},{"name":"United Graduate School of Child Development, The University of Osaka, Yamadaoka, Suita 565-0871, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harutsugu","family":"Tatebe","sequence":"additional","affiliation":[{"name":"Institute for Quantum Medical Science, National Institutes for Quantum Science and Technology, Chiba 263-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0381-2904","authenticated-orcid":false,"given":"Hiroto","family":"Takada","sequence":"additional","affiliation":[{"name":"Department of Neurology, NHO Aomori National Hospital, Aomori 038-1331, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Neuromuscular Diseases, Yokohama Rosai Hospital, Yokohama 222-0036, Kanagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6156-4713","authenticated-orcid":false,"given":"Michio","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Neurology, NHO Akita National Hospital, Yurihonjo 018-1301, Akita, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Neurology, NHO Asahikawa Medical Center, Asahikawa 070-8644, Hokkaido, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1149-4881","authenticated-orcid":false,"given":"Satoshi","family":"Kuru","sequence":"additional","affiliation":[{"name":"Department of Neurology, NHO Suzuka National Hospital, Suzuka 513-0004, Mie, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natsuki","family":"Kira","sequence":"additional","affiliation":[{"name":"Clinical Neurophysiology, Department of Clinical Laboratory and Biomedical Sciences, The University of Osaka Graduate School of Medicine, Yamadaoka, Suita 565-0871, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoya","family":"Kubota","sequence":"additional","affiliation":[{"name":"Clinical Neurophysiology, Department of Clinical Laboratory and Biomedical Sciences, The University of Osaka Graduate School of Medicine, Yamadaoka, Suita 565-0871, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuaki","family":"Mizutani","sequence":"additional","affiliation":[{"name":"Department of Neurology, Fujita Health University School of Medicine, Toyoake 470-1192, Aichi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8553-8536","authenticated-orcid":false,"given":"Hirohisa","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Neurology, Fujita Health University School of Medicine, Toyoake 470-1192, Aichi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7484-8424","authenticated-orcid":false,"given":"Yuhei","family":"Takado","sequence":"additional","affiliation":[{"name":"Institute for Quantum Life Science, National Institutes for Quantum Science and Technology, Chiba 263-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiko","family":"Tokuda","sequence":"additional","affiliation":[{"name":"Department of Neuroetiology and Diagnostic Science, Healthy Longevity Medicine, Osaka Metropolitan University Graduate School of Medicine, Suita 545-8585, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/B978-0-08-045031-5.00015-3","article-title":"Myotonic Dystrophy Types 1 and 2","volume":"101","author":"Ashizawa","year":"2011","journal-title":"Handb. 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