{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T12:11:15Z","timestamp":1784549475729,"version":"3.55.0"},"reference-count":37,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,16]],"date-time":"2023-07-16T00:00:00Z","timestamp":1689465600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005762","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":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Dystonia is a heterogeneous movement disorder, and it remains unclear whether neurodegeneration is involved. Neurofilament light chain (NfL) is a biosignature of neurodegeneration. We aimed to investigate whether plasma NfL levels were elevated and associated with disease severity in patients with dystonia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We enrolled 231 unrelated dystonia patients (isolated dystonia <jats:italic>n<\/jats:italic>\u2009=\u2009203; combined dystonia <jats:italic>n<\/jats:italic>\u2009=\u200928) and 54 healthy controls from movement disorder clinics. Clinical severity was evaluated using the Fahn Marsden Dystonia Rating Scale, the Unified Dystonia Rating Scale, and the Global Dystonia Rating Scale. Blood NfL levels were measured by single\u2010molecule array.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Plasma NfL levels were significantly higher in those with generalized dystonia compared to those with focal dystonia (20.1\u2009\u00b1\u20098.8 vs. 11.7\u2009\u00b1\u20097.2\u2009pg\/mL; <jats:italic>p<\/jats:italic>\u2009=\u20090.01) or controls (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.01), while the level was comparable between the focal dystonia group and controls (<jats:italic>p<\/jats:italic>\u2009=\u20090.08). Furthermore, the dystonia combined with parkinsonism group had higher NfL levels than the isolated dystonia group (17.4\u2009\u00b1\u20096.2 vs. 13.5\u2009\u00b1\u20097.5\u2009pg\/mL; <jats:italic>p<\/jats:italic>\u2009=\u20090.04). Notably, whole\u2010exome sequencing was performed in 79 patients and two patients were identified as having likely pathogenic variants: one had a heterozygous c.122G&gt;A (p.R41H) variant in <jats:italic>THAP1<\/jats:italic> (DYT6) and the other carried a c.1825G&gt;A (p.D609N) substitution in <jats:italic>ATP1A3<\/jats:italic> (DYT12). No significant correlation was found between plasma NfL levels and dystonia rating scores.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Plasma NfL levels are elevated in patients with generalized dystonia and dystonia combined with parkinsonism, suggesting that neurodegeneration is involved in the disease process of this subgroup of patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15972","type":"journal-article","created":{"date-parts":[[2023,7,9]],"date-time":"2023-07-09T16:14:46Z","timestamp":1688919286000},"page":"3098-3104","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Blood neurofilament light chain as a surrogate marker for dystonia"],"prefix":"10.1111","volume":"30","author":[{"given":"Meng\u2010Chen","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"},{"name":"Department of Geriatrics and Gerontology National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yung\u2010Yee","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Neurology Kaohsiung Chang Gung Memorial Hospital  Kaohsiung Taiwan"},{"name":"Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital  Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min\u2010Yu","family":"Lan","sequence":"additional","affiliation":[{"name":"Department of Neurology Kaohsiung Chang Gung Memorial Hospital  Kaohsiung Taiwan"},{"name":"Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital  Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying\u2010Fa","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology Kaohsiung Chang Gung Memorial Hospital  Kaohsiung Taiwan"},{"name":"Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital  Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun\u2010Hwei","family":"Tai","sequence":"additional","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Szu\u2010Ju","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"},{"name":"Graduate Institute of Medical Genomics and Proteomics, College of Medicine National Taiwan University  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin\u2010Hsien","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"},{"name":"Institute of Molecular Medicine, College of Medicine National Taiwan University  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25475"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.08.001"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-316250"},{"issue":"6","key":"e_1_2_9_5_1","first-page":"362","article-title":"Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP)","volume":"54","author":"Lee LV","year":"2001","journal-title":"Mol Pathol"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-016-0362-z"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.1.120"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20225"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2013.11.062"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2021.113855"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0058-z"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2016.05.018"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28305"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2022.04.013"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2021.12.003"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.1.73"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10377"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2023.105294"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/gix110"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008088"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-14612-6"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-018-0023-6"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2000.90339.x"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab360"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2022.10.008"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.2217\/iim.13.49"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2018.06.004"},{"key":"e_1_2_9_29_1","article-title":"White matter microstructure in idiopathic craniocervical dystonia","volume":"5","author":"Pinheiro GL","year":"2015","journal-title":"Tremor Other Hyperkinet Mov"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15483"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1279-x"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.304"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1159\/000440863"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.12.1839"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2012.11.019"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27358"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25579"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac328"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.15972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T09:48:22Z","timestamp":1694080102000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.15972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,16]]},"references-count":37,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1111\/ene.15972"],"URL":"https:\/\/doi.org\/10.1111\/ene.15972","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,16]]},"assertion":[{"value":"2023-03-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}