{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T09:43:21Z","timestamp":1770457401312,"version":"3.49.0"},"reference-count":23,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2021,12,14]],"date-time":"2021-12-14T00:00:00Z","timestamp":1639440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004321","name":"Shire","doi-asserted-by":"publisher","award":["Czech Medical Society of J.E.Purkyn\u011b"],"award-info":[{"award-number":["Czech Medical Society of J.E.Purkyn\u011b"]}],"id":[{"id":"10.13039\/501100004321","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Background and aims<\/jats:title>\n<jats:p>Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the <jats:italic>alpha-galactosidase A<\/jats:italic> gene (<jats:italic>GLA<\/jats:italic>). FD is a known cause of stroke in younger patients. There are limited data on prevalence of FD and stroke risk in unselected stroke patients.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Methods<\/jats:title>\n<jats:p>A prospective nationwide study including 35 (78%) of all 45 stroke centers and all consecutive stroke patients admitted during three months. Clinical data were collected in the RES-Q database. FD was diagnosed using dried blood spots in a stepwise manner: in males\u2014enzymatic activity, globotriaosylsphingosine (lyso-Gb3) quantification, if positive followed by <jats:italic>GLA<\/jats:italic> gene sequencing; and in females <jats:italic>GLA<\/jats:italic> sequencing followed by lyso-Gb3.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Results<\/jats:title>\n<jats:p>986 consecutive patients (54% men, mean age 70 years) were included. Observed stroke type was ischemic 79%, transient ischemic attack (TIA) 14%, intracerebral hemorrhage (ICH) 7%, subarachnoid hemorrhage 1% and cerebral venous thrombosis 0.1%. Two (0.2%, 95% CI 0.02\u20130.7) patients had a pathogenic variant associated with the classical FD phenotype (c.1235_1236delCT and p.G325S). Another fourteen (1.4%, 95% CI 0.08\u20132.4) patients had a variant of <jats:italic>GLA<\/jats:italic> gene considered benign (9 with p.D313Y, one p.A143T, one p.R118C, one p.V199A, one p.R30K and one p.R38G). The index stroke in two carriers of disease-associated variant was ischemic lacunar. In 14 carriers of <jats:italic>GLA<\/jats:italic> gene variants 11 strokes were ischemic, two TIA, and one ICH. Patients with positive as compared to negative <jats:italic>GLA<\/jats:italic> gene screening were younger (mean 60\u00b1SD, min, max, vs 70\u00b1SD, min, max, P = 0.02), otherwise there were no differences in other baseline variables.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The prevalence of FD in unselected adult patients with acute stroke is 0.2%. Both patients who had a pathogenic <jats:italic>GLA<\/jats:italic> gene variant were younger than 50 years. Our results support FD screening in patients that had a stroke event before 50 years of age.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0260601","type":"journal-article","created":{"date-parts":[[2021,12,14]],"date-time":"2021-12-14T18:44:23Z","timestamp":1639507463000},"page":"e0260601","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":20,"title":["Nationwide screening for Fabry disease in unselected stroke 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