{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T23:42:34Z","timestamp":1790206954720,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,3,14]],"date-time":"2017-03-14T00:00:00Z","timestamp":1489449600000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Transthyretin\u2010related familial amyloid polyneuropathy (<jats:styled-content style=\"fixed-case\">TTR\u2010FAP<\/jats:styled-content>) is a rare hereditary disorder, characterized by a length\u2010dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed <jats:styled-content style=\"fixed-case\">TTR\u2010FAP<\/jats:styled-content>. Sequence analysis of <jats:styled-content style=\"fixed-case\"><jats:italic>TTR<\/jats:italic><\/jats:styled-content> gene revealed the presence of four different mutations: <jats:styled-content style=\"fixed-case\">Thr49Ala<\/jats:styled-content>(p.<jats:styled-content style=\"fixed-case\">Thr69Ala<\/jats:styled-content>), <jats:styled-content style=\"fixed-case\">Leu55Arg<\/jats:styled-content>(p.<jats:styled-content style=\"fixed-case\">Leu75Arg<\/jats:styled-content>), <jats:styled-content style=\"fixed-case\">Tyr116Ser<\/jats:styled-content>(p.<jats:styled-content style=\"fixed-case\">Tyr136Ser<\/jats:styled-content>), and Ala<jats:styled-content style=\"fixed-case\">36Pro<\/jats:styled-content>(p.<jats:styled-content style=\"fixed-case\">Ala56Pro<\/jats:styled-content>) from six affected patients and two asymptomatic individuals. Two mutations, <jats:styled-content style=\"fixed-case\">Thr49Ala<\/jats:styled-content>(p.<jats:styled-content style=\"fixed-case\">Thr69Ala<\/jats:styled-content>) and Tyr116Ser(p.Tyr136 Ser), were detected in Chinese <jats:styled-content style=\"fixed-case\">FAP<\/jats:styled-content> patients for the first time. All affected patients manifested a progressive sensorimotor polyneuropathy starting in the lower limbs. The majority of the examined patients displayed cardiomyopathy and vitreous opacities. To avoid misdiagnosis, clinicians should consider screening for <jats:styled-content style=\"fixed-case\"><jats:italic>TTR<\/jats:italic><\/jats:styled-content> variants in patients presenting with progressive polyneuropathy of undetermined origins.<\/jats:p>","DOI":"10.1111\/jns.12196","type":"journal-article","created":{"date-parts":[[2016,11,17]],"date-time":"2016-11-17T06:45:28Z","timestamp":1479365128000},"page":"19-26","source":"Crossref","is-referenced-by-count":20,"title":["Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds"],"prefix":"10.1111","volume":"22","author":[{"given":"Gonglu","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Neurology and Research Center of Neurology, Collaborative Innovation Center for Brain Science Zhejiang University School of Medicine Second Affiliated Hospital  Hangzhou 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