{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T01:09:00Z","timestamp":1777943340445,"version":"3.51.4"},"reference-count":37,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T00:00:00Z","timestamp":1729209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Stroke"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>The global prevalence of ischemic stroke in young adults is increasing, leading to a significant social impact. Fabry disease is a recognized cause of ischemic stroke in young patients, and although disease-modifying treatments are available, further evidence is needed to confirm their effectiveness in reducing the incidence of ischemic strokes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims:<\/jats:title>\n                    <jats:p>This study aimed to identify undiagnosed Fabry disease in young adult patients with ischemic stroke in a Taiwanese cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>This multicenter, prospective cohort study enrolled patients aged 20\u201355\u2009years who had experienced an ischemic stroke or transient ischemic attack (TIA) within 10\u2009days, from 1 January 2016 to 31 December 2020. Screening for Fabry disease was performed using a dry blood test to measure \u03b1-galactosidase activity in male patients and blood globotriaosylsphingosine (lyso-Gb3) levels in female patients. For patients with positive screen results, genetic diagnosis of Fabry disease was pursued through Sanger sequencing of the GLA gene, covering all exons and a segment of intron 4.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>A total of 977 patients (659 male, 68%) were enrolled from seven hospitals across Taiwan. Four patients (0.4%, all male) had positive screening results, and two patients (0.2%) were genetically diagnosed with Fabry disease. Case 1 had the GLA c.658C&gt;T mutation and experienced ischemic stroke in the bilateral occipital regions. Case 2 had the GLA c.640-801G&gt;A mutation and experienced an ischemic stroke in the left superficial watershed area.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The prevalence of undiagnosed Fabry disease in this cohort of Taiwanese young adults with ischemic stroke or TIA was 0.3% among the young male population. Understanding the prevalence of undiagnosed Fabry disease in young adults with ischemic stroke could help shape future Fabry disease screening policies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Data access statement:<\/jats:title>\n                    <jats:p>The collected data will be available upon reasonable request from the corresponding author.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/17474930241289864","type":"journal-article","created":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T07:41:48Z","timestamp":1727336508000},"page":"235-244","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Investigating undiagnosed Fabry disease in young adults with ischemic stroke: A multicenter cohort study"],"prefix":"10.1177","volume":"20","author":[{"given":"Po-Yu","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan"},{"name":"Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tien-Yu","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng-Feng","family":"Sung","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Internal Medicine, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen L.","family":"Po","sequence":"additional","affiliation":[{"name":"Stroke Center, Mackay Memorial Hospital, Taipei"},{"name":"Department of Neurology, Mackay Memorial Hospital, Taipei"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Chi","family":"Hsu","sequence":"additional","affiliation":[{"name":"Division of Cerebrovascular Diseases, Neurological Institute, Taipei Veterans General Hospital, Taipei"},{"name":"School of Medicine, National Yang Ming Chiao Tung University College of Medicine, Taipei"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung-Chun","family":"Tang","sequence":"additional","affiliation":[{"name":"Stroke Center and Department of Neurology, National Taiwan University Hospital, Taipei"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7885-6376","authenticated-orcid":false,"given":"Yen-Chu","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Chang 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