{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T14:24:08Z","timestamp":1780928648195,"version":"3.54.1"},"reference-count":64,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,19]],"date-time":"2021-03-19T00:00:00Z","timestamp":1616112000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007937","name":"Peking University","doi-asserted-by":"publisher","award":["BMU2020PY011"],"award-info":[{"award-number":["BMU2020PY011"]}],"id":[{"id":"10.13039\/501100007937","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study aims to report the genotypes and phenotypes of hereditary transthyretin amyloidosis <jats:bold>(<\/jats:bold>ATTR) in a large Chinese cohort, yet the clinical and genetic profiles of ATTR remain elusive in mainland China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fifty\u2010four patients with molecularly confirmed ATTR from 39 unrelated families were identified by sequencing the <jats:italic>TTR<\/jats:italic> gene. Sural nerve biopsies were performed in 40 of these cases. The clinical and electrophysiological data were retrospectively collected and analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The male\/female ratio was 42:12. The average age of patients at the onset of the disease was 47.8\u00a0\u00b1\u00a013.0\u00a0years. The late\u2010onset type occurred in 29 cases (53.7%). Twenty\u2010two probands (56.4%) had a family history with ATTR. The initial symptoms were limb paresthesia in 33 cases (61.1%), autonomic dysfunction in 15 cases (27.8%), and blurred vision in 6 cases (11.1%). A total of 22 different <jats:italic>TTR<\/jats:italic> mutations were identified, including Val30Met (25.6%) in 10 families in North China and Ala97Ser in 4 families (10.3%) in South China. Electrophysiological studies revealed general sensorimotor axonal polyneuropathy in 33\/44 cases (75.0%), mixed neuropathy with axonal and demyelinating impairment features in 9\/44 cases (20.5%) and isolated carpal tunnel syndrome in two cases. Sural nerve biopsies revealed positive Congo red staining in 16\/40 cases (40.0%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Chinese patients with ATTR exhibited heterogeneous <jats:italic>TTR<\/jats:italic> genotypes and clinical phenotypes. Val30Met remains the most common mutation type in mainland China.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51328","type":"journal-article","created":{"date-parts":[[2021,3,19]],"date-time":"2021-03-19T15:56:37Z","timestamp":1616169397000},"page":"831-841","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3088-8552","authenticated-orcid":false,"given":"Kang","family":"Du","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University First Hospital 8 Xishiku Street Xicheng District Beijing 100034 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital 8 Xishiku Street Xicheng District 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