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Given the current availability of effective therapies, close follow-up of presymptomatic <jats:italic>TTR<\/jats:italic> mutation carriers is essential to recognize disease onset at the earliest sign. In addition to routine techniques, in recent years several novel tools have been proposed, although a consensus on their use has not been reached yet. In this paper, we aimed to evaluate possible markers of neuropathic disease onset intended to discriminate clinically asymptomatic carriers from early symptomatic patients, thus allowing timely treatment initiation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Thirty-eight presymptomatic carriers were enrolled. Clinical and electrophysiological findings at first evaluation and follow-up were collected. All carriers underwent an extensive clinical and instrumental evaluation according to the standard clinical practice. One or more non-routine investigations, whose use in this field is not yet validated (henceforth \u201cunconventional\u201d), were additionally assessed in a subgroup of individuals.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Based on the exclusive use of routine investigations, it was possible to define disease onset in 4\/38 carriers during the follow-up. Employing additionally one or more \u201cunconventional\u201d tests, abnormal findings, indicative of a possible \u201cconversion\u201d to symptomatic disease, were detected in further 12 cases. More than half of our study cohort showed findings suggestive of small nerve fiber (SF) involvement at either invasive or non-invasive tests.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>A close, multidisciplinary monitoring of presymptomatic <jats:italic>TTR<\/jats:italic> mutation carriers is fundamental, and diagnostic workup should include both routine and \u201cunconventional\u201d tests. Assessment of SF involvement is important also in non-endemic countries.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10072-023-07177-x","type":"journal-article","created":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T05:01:45Z","timestamp":1699419705000},"page":"1675-1684","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset"],"prefix":"10.1007","volume":"45","author":[{"given":"Angela","family":"Romano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Guglielmino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Bisogni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Di Paolantonio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Truini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo Maria","family":"Minnella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Ausilia","family":"Sciarrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Vitali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Maceroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Galosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Sabatelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7539-505X","authenticated-orcid":false,"given":"Marco","family":"Luigetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,11,8]]},"reference":[{"key":"7177_CR1","doi-asserted-by":"publisher","first-page":"1086","DOI":"10.1016\/S1474-4422(11)70246-0","volume":"10","author":"V Plant\u00e9-Bordeneuve","year":"2011","unstructured":"Plant\u00e9-Bordeneuve V, Said G (2011) Familial amyloid polyneuropathy. 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Written informed consent was obtained from each enrolled individual prior to inclusion.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"A.R. received financial grants (honoraria and speaking) from Akcea, and travel grants from Akcea, Alnylam, Pfizer, and Csl Behring. G.B. received financial grants (honoraria and speaking) from Alnylam, and travel grants from Pfizer, Kedrion, and Grifols. A.D.P. received financial grants (honoraria and speaking) from Akacia, Alnylam, Sobi, and travel grants from Akcea. M.A.S. received travel grants to attend scientific meetings from Sobi. F.V. received travel grants to attend scientific meetings from Alnylam. M.S. received financial grants (honoraria and speaking) from Akcea. M.L. received financial grants (honoraria and speaking) from Akcea, Alnylam, and Pfizer, and travel grants from Akcea, Alnylam, Sobi, Pfizer, Kedrion, Csl Behring, and Grifols. All other Authors reported no disclosures.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}