{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T22:24:51Z","timestamp":1790115891900,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,12,4]],"date-time":"2018-12-04T00:00:00Z","timestamp":1543881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>Introduction<\/jats:italic>\n                    : In this study we assessed the value of genetic screening for Fabry disease (FD) and hereditary ATTR amyloidosis in patients with idiopathic small\u2010fiber neuropathy (SFN) or mixed neuropathy in a clinical setting.\n                    <jats:italic>Methods<\/jats:italic>\n                    : This was a Nordic multicenter study with 9 participating centers. Patients with idiopathic SFN or mixed neuropathy were included. Genetic sequencing of the\n                    <jats:italic>TTR<\/jats:italic>\n                    and\n                    <jats:italic>GLA<\/jats:italic>\n                    genes was performed.\n                    <jats:italic>Results<\/jats:italic>\n                    : There were 172 patients enrolled in the study. Genetic screening was performed in 155 patients. No pathogenic mutations in the\n                    <jats:italic>TTR<\/jats:italic>\n                    gene were found. A single patient had a possible pathogenic variant, R118C, in the\n                    <jats:italic>GLA<\/jats:italic>\n                    gene, but clinical investigation showed no firm signs of FD.\n                    <jats:italic>Discussion<\/jats:italic>\n                    : Screening for hereditary ATTR amyloidosis and FD in patients with idiopathic SFN or mixed neuropathy without any additional disease\u2010specific symptoms or clinical characteristics in a Nordic population appears to be of little value in a clinical setting.\n                    <jats:italic>Muscle Nerve<\/jats:italic>\n                    <jats:bold>59<\/jats:bold>\n                    :354\u2013357, 2019\n                  <\/jats:p>","DOI":"10.1002\/mus.26348","type":"journal-article","created":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T03:49:26Z","timestamp":1537760966000},"page":"354-357","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small\u2010fiber and mixed neuropathy"],"prefix":"10.1002","volume":"59","author":[{"given":"Kristin","family":"Samuelsson","sequence":"first","affiliation":[{"name":"Department of Clinical Neuroscience Karolinska Institute  R54, Huddinge 141 86 Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Radovic","sequence":"additional","affiliation":[{"name":"Department of Neurology Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rayomand","family":"Press","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuroscience Karolinska Institute  R54, Huddinge 141 86 Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari","family":"Auranen","sequence":"additional","affiliation":[{"name":"Research Programs Unit, Molecular Neurology University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emil","family":"Ylikallio","sequence":"additional","affiliation":[{"name":"Research Programs Unit, Molecular Neurology University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henna","family":"Tyynismaa","sequence":"additional","affiliation":[{"name":"Research Programs Unit, Molecular Neurology University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikko","family":"K\u00e4Rpp\u00e4","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Neuroscience, Neurology University of Oulu  Oulu 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