{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:39:13Z","timestamp":1790872753197,"version":"4.1.0"},"reference-count":26,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:p>\n            <jats:bold>\n              <jats:italic>Background and Purpose\u2014<\/jats:italic>\n            <\/jats:bold>\n            The cause of initial ischemic stroke in up to 30% of young patients remains unclear. Fabry disease, due to deficient \u03b1-galactosidase A (\u03b1-Gal A) activity, is a vascular endothelial glycosphingolipid storage disease typically presenting in childhood. With advancing age, patients develop renal, cardiac, and cerebrovascular disease and die prematurely. A European study suggested an increased prevalence of unrecognized Fabry disease in patients with cryptogenic stroke. We hypothesized that \u03b1-Gal A deficiency is a rare cause of initial early-onset ischemic stroke in men.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Methods\u2014<\/jats:italic>\n            <\/jats:bold>\n            The Stroke Prevention in Young Men Study enrolled &gt;550 men (15 to 49 years) with first ischemic stroke in the Baltimore\u2013Washington area in 2004 to 2007. Frozen plasma samples were assayed for \u03b1-Gal A activity, and DNA from patients with consistently low plasma \u03b1-Gal A activities were sequenced.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Results\u2014<\/jats:italic>\n            <\/jats:bold>\n            The study sample consisted of 558 men (42% African-American; median age 44 years). Stroke was cryptogenic in 154 men (40% African-American). In 10 patients with low plasma \u03b1-Gal A activities, DNA sequencing identified alterations in the \u03b1-Gal A gene in 2 patients. The polymorphism, D313Y, which results in low plasma enzyme activity, but near normal levels of cellular activity was seen in one European-American male. The Fabry disease-causing A143T mutation was seen in an African-American male with cryptogenic stroke (0.18% of all strokes: upper 95% CI=0.53%; 0.65% of cryptogenic strokes: upper 95% CI=1.92%).\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Conclusions\u2014<\/jats:italic>\n            <\/jats:bold>\n            In this biracial population, unrecognized Fabry disease is a rare but treatable cause of initial ischemic stroke in young men.\n          <\/jats:p>","DOI":"10.1161\/strokeaha.109.558320","type":"journal-article","created":{"date-parts":[[2009,12,11]],"date-time":"2009-12-11T03:14:10Z","timestamp":1260501250000},"page":"78-81","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":93,"title":["Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke"],"prefix":"10.1161","volume":"41","author":[{"given":"Marcella A.","family":"Wozniak","sequence":"first","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J.","family":"Kittner","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley","family":"Tuhrim","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Cole","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barney","family":"Stern","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Dobbins","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie E.","family":"Grace","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Nazarenko","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Dobrovolny","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"McDade","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.A.W., S.J.K., J.W.C., B.S., M.D., E.M.), University of Maryland School of Medicine and Veterans Affairs Medical Center (M.A.W., S.J.K., J.W.C., B.S.), Baltimore, Md; the Departments of Neurology (S.T.) and Genetics and Genomic Sciences (M.E.G., I.N., R.D., R.J.D.), Mount Sinai School of Medicine, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_1_2","unstructured":"Desnick RJ Ioannou YA Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR Beaudet AL Sly WS Valle D eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001: 3733\u20133774."},{"key":"e_1_3_3_2_2","first-page":"395","volume":"24","year":"1991","unstructured":"von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. An atypical variant of Fabry\u2019s disease with manifestations confined to the myocardium. N Engl J Med. 1991; 24: 395\u2013399.","journal-title":"N Engl J Med"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199508033330504"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/504601"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00160.x"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000124671.61963.1E"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10157-005-0369-4"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.5414\/CNP64281"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.0000012626.81324.38"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.09.022"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.06.062"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)67635-0"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2007.03.008"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1161\/str.26.1.46"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.4.890"},{"key":"e_1_3_3_16_2","first-page":"157","volume":"81","year":"1973","unstructured":"Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. Fabry\u2019s disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med. 1973; 81: 157\u2013171.","journal-title":"J Lab Clin Med"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90384-3"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00012-4"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-2-5-297"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00136-7"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10275"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF03401671"},{"key":"e_1_3_3_23_2","first-page":"77","volume":"146","year":"2006","unstructured":"Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ; Fabry Disease Clinical Trial Study Group. 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Ann Intern Med. 2006; 146: 77\u201386.","journal-title":"Ann Intern Med"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.794529"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31802d8321"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"}],"container-title":["Stroke"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/STROKEAHA.109.558320","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T08:19:35Z","timestamp":1738829975000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/STROKEAHA.109.558320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1161\/STROKEAHA.109.558320"],"URL":"https:\/\/doi.org\/10.1161\/strokeaha.109.558320","relation":{},"ISSN":["0039-2499","1524-4628"],"issn-type":[{"value":"0039-2499","type":"print"},{"value":"1524-4628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1]]},"assertion":[{"value":"2009-05-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2009-07-21","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2009-07-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2009-12-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}