{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T16:43:18Z","timestamp":1790959398770,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T00:00:00Z","timestamp":1695081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004319","name":"Pfizer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004319","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":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Hereditary transthyretin amyloidosis (ATTRv) is a life\u2010threatening disease caused by mutations in the gene encoding transthyretin (<jats:italic>TTR<\/jats:italic>). The recent therapeutic advances have underlined the importance of easily accessible, objective biomarkers of both disease onset and progression. Preliminary evidence suggests a potential role in this respect for neurofilament light chain (NfL). In this study, the aim was to determine serum NfL (sNfL) levels in a late\u2010onset ATTRv population and evaluate whether it might represent a reliable biomarker of disease onset (i.e., \u2018conversion\u2019 from the asymptomatic status to symptomatic disease in <jats:italic>TTR<\/jats:italic> mutation carriers).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In all, 111 individuals harbouring a pathogenic <jats:italic>TTR<\/jats:italic> variant (61 symptomatic ATTRv patients and 50 presymptomatic carriers) were consecutively enrolled. Fifty healthy volunteers were included as the control group. Ella\u2122 apparatus was used to assess sNfL levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Serum NfL levels were increased in ATTRv patients compared to both presymptomatic carriers and healthy controls, whilst not differing between carriers and healthy controls. An sNfL cut\u2010off of 37.10\u2009pg\/mL could discriminate between asymptomatic and symptomatic individuals with high diagnostic accuracy (area under the curve 0.958; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001), sensitivity (81.4%) and specificity (100%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Serum NfL seems to be a promising biomarker of peripheral nerve involvement in ATTRv amyloidosis and might become a reliable, objective measure to detect the transition from the presymptomatic stage to the onset of symptomatic disease. Further longitudinal studies are needed to confirm such a role and determine whether it could equally represent a biomarker of disease progression and response to therapy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16070","type":"journal-article","created":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T14:12:43Z","timestamp":1695132763000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2061-1509","authenticated-orcid":false,"given":"Angela","family":"Romano","sequence":"first","affiliation":[{"name":"Dipartimento di Neuroscienze Organi di Senso e Torace Fondazione Policlinico Universitario Agostino Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7616-7008","authenticated-orcid":false,"given":"Guido","family":"Primiano","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroscienze Organi di Senso e Torace Fondazione Policlinico Universitario Agostino Gemelli IRCCS  Rome Italy"},{"name":"Dipartimento di Neuroscienze Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Antonini","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroscienze Salute Mentale e Organi di Senso (NESMOS) Sapienza Universit\u00e0 di Roma  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ceccanti","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroscienze Umane Sapienza Universit\u00e0 di Roma  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Fenu","sequence":"additional","affiliation":[{"name":"S.C. Malattie Neurologiche Rare Dipartimento di Neuroscienze Cliniche Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Forcina","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroscienze Salute Mentale e Organi di Senso (NESMOS) Sapienza Universit\u00e0 di Roma  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Gentile","sequence":"additional","affiliation":[{"name":"U.O.C. 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