{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T14:23:31Z","timestamp":1763389411001,"version":"3.40.4"},"reference-count":19,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dement Geriatr Cogn Disord"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Introduction:<\/i><\/b> The potential of neurofilament light (NfL) as a blood-based biomarker is currently being investigated in autosomal dominant neurodegenerative disease. This study explores the clinical utility of serum-NfL in frontotemporal dementia due to <i>CHMP2B<\/i> mutation (FTD-3). <b><i>Methods:<\/i><\/b> This cross-sectional study included serum and CSF data from 38 members of the Danish FTD-3 family: 12 affected <i>CHMP2B<\/i> mutation carriers, 10 presymptomatic carriers, and 16 noncarriers. Serum-NfL levels measured by single-molecule array (Simoa) technology were tested for associations with the clinical groups and clinical parameters. Serum and CSF data were compared, and CSF\/serum-albumin ratio was included as a measure of blood-brain barrier (BBB) function. <b><i>Results:<\/i><\/b> Serum-NfL concentrations were significantly increased in symptomatic <i>CHMP2B<\/i> mutation carriers compared to presymptomatic carriers and in both groups compared to healthy family controls. Serum-NfL levels appear to increase progressively with age in presymptomatic carriers, and this is perhaps followed by a change in trajectory when patients become symptomatic. Measurements of NfL in serum and CSF were highly correlated and fold-changes in serum and CSF between clinical groups were similar. Increase in serum-NFL levels was correlated with reduced ACE-score. Higher CSF\/serum-albumin ratios were demonstrated in FTD-3 patients, but this did not affect the significant associations between serum-NfL and clinical groups. <b><i>Conclusion:<\/i><\/b> Serum-NfL could be utilized as an accurate surrogate marker of CSF levels to segregate symptomatic <i>CHMP2B<\/i> carriers, presymptomatic carriers, and non-carriers. The observed indication of BBB dysfunction in FTD-3 patients did not confound this use of serum-NfL. The results support the occurrence of mutation-related differences in NfL dynamics in familial FTD. <\/jats:p>","DOI":"10.1159\/000513877","type":"journal-article","created":{"date-parts":[[2021,3,23]],"date-time":"2021-03-23T17:00:11Z","timestamp":1616518811000},"page":"533-538","source":"Crossref","is-referenced-by-count":9,"title":["Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation"],"prefix":"10.1159","volume":"49","author":[{"given":"Anders","family":"Toft","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Roos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olli","family":"J\u00e4\u00e4skel\u00e4inen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian Sand\u00f8e","family":"Musaeus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emil Elb\u00e6k","family":"Henriksen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Johannsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Troels Tolstrup","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanna-Kaisa","family":"Herukka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"Hviid Simonsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f8rgen Erik","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,2,24]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1609"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70324-2"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004799"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.03.015"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0058-z"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30354-0"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.325"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003154"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2011-000368"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2008.12.024"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159\/000200466"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1186\/s13195-019-0472-5"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-018-0304-3"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24052"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02853.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24954"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1177\/1352458517715132"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-200168"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2017.05.011"}],"container-title":["Dementia and Geriatric Cognitive Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/513877","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/513877","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:19:03Z","timestamp":1745425143000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000513877"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":19,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2021,4,8]]},"published-print":{"date-parts":[[2021,4,13]]}},"URL":"https:\/\/doi.org\/10.1159\/000513877","archive":["Portico"],"relation":{},"ISSN":["1420-8008","1421-9824"],"issn-type":[{"type":"print","value":"1420-8008"},{"type":"electronic","value":"1421-9824"}],"subject":[],"published":{"date-parts":[[2020]]}}}