{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:12:00Z","timestamp":1761919920271},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T00:00:00Z","timestamp":1417478400000},"content-version":"unspecified","delay-in-days":3957,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[2004,2]]},"abstract":"<jats:sec id=\"S0317167100002936_abs1\"><jats:title>Background:<\/jats:title><jats:p>Fabry\u2019s disease is an X-linked disorder, caused by a deficiency of the lysosomal enzyme \u03b1-galactosidase A which results in the accumulation of the glycosphingolipid, ceramide trihexose in the vascular endothelium and can lead to cerebral infarction. Male hemizygotes are generally more severely affected than heterozygote females. Clinical disease in females is thought to be due to unequal X chromosome inactivation.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100002936_abs2\"><jats:title>Case:<\/jats:title><jats:p>A 19-year-old woman, who was previously well, presented with neurological deficits secondary to basal ganglia and pontine infarction. Extensive cardiac, arterial and hematologic investigations did not identify the etiology of her stroke. Muscle biopsy revealed endothelial lysosomal aggregates most consistent with a diagnosis of Fabry\u2019s disease. The diagnosis was confirmed on the basis of molecular genotype analysis.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100002936_abs3\"><jats:title>Discussion:<\/jats:title><jats:p>Inherited causes of stroke such as Fabry\u2019s disease should be considered in young patients with stroke if an etiologic diagnosis is not reached after complete investigations. Muscle biopsy can assist with the diagnosis and guide further investigations. This report summarizes the biochemical and histological features of Fabry\u2019s disease and the associated genetic abnormalities.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0317167100002936","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T15:35:14Z","timestamp":1418398514000},"page":"112-114","source":"Crossref","is-referenced-by-count":18,"title":["Fabry\u2019s Disease Presenting as Stroke in a Young Female"],"prefix":"10.1017","volume":"31","author":[{"given":"Paul S.","family":"Giacomini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick T.","family":"Shannon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joe T.R.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl","family":"Jaigobin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2014,12,2]]},"reference":[{"key":"S0317167100002936_ref006","first-page":"2789","article-title":"Stroke in the young inthe Northern Manhattan Stroke Study","author":"Bradley","year":"2002","journal-title":"Stroke"},{"key":"S0317167100002936_ref003","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410040610"},{"key":"S0317167100002936_ref010","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400105"},{"key":"S0317167100002936_ref007","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540290081021"},{"key":"S0317167100002936_ref002","doi-asserted-by":"publisher","DOI":"10.3109\/01913129009076133"},{"key":"S0317167100002936_ref008","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1987.00520170009012"},{"key":"S0317167100002936_ref001","first-page":"3733","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Desnick","year":"2001"},{"key":"S0317167100002936_ref004","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90113-5"},{"key":"S0317167100002936_ref005","first-page":"361","article-title":"Evidence for preferential X-chromosome inactivation in a familywith Fabry disease","volume":"29","author":"Ropers","year":"1977","journal-title":"Am J Hum Genet"},{"key":"S0317167100002936_ref009","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.4.890"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167100002936","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T22:10:39Z","timestamp":1555020639000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100002936\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["S0317167100002936"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100002936","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2]]}}}