{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T16:22:24Z","timestamp":1758039744425,"version":"3.44.0"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T00:00:00Z","timestamp":1725408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Purpose<\/jats:title><jats:p>Small\u2010fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (<jats:italic>TTR<\/jats:italic>) gene, but not all <jats:italic>TTR<\/jats:italic> gene variants are pathogenic. The nonamyloidogenic c.76G&gt;A (rs1800458) and c.337\u201018G&gt;C (rs36204272) variants of <jats:italic>TTR<\/jats:italic> were recently reported to be associated with SFN. We investigated this putative association by analyzing <jats:italic>TTR<\/jats:italic> gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this retrospective single\u2010center study, we analyzed the frequency of the c.76G&gt;A and c.337\u201018G&gt;C <jats:italic>TTR<\/jats:italic> gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G&gt;A <jats:italic>TTR<\/jats:italic> and 5.25% for c.337\u201018G&gt;C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The c.76G&gt;A and c.337\u201018G&gt;C <jats:italic>TTR<\/jats:italic> gene variants are not associated with SFN.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16461","type":"journal-article","created":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T10:05:18Z","timestamp":1725444318000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Nonamyloidogenic <i>TTR<\/i> gene variants c.<scp>76G<\/scp>&gt;A and c.337\u2010<scp>18G<\/scp>&gt;C are not associated with idiopathic small\u2010fiber neuropathy"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6214-1613","authenticated-orcid":false,"given":"C\u00e9line","family":"Konecki","sequence":"first","affiliation":[{"name":"G\u00e9n\u00e9tique 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