Fabry Disease Frequency Among Young Cryptogenic Stroke Patients in the City of Edirne, Turkey

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dc.contributor.authorGuler, Sibel
dc.contributor.authorSunal, Asli Sert
dc.date.accessioned2024-06-12T11:01:45Z
dc.date.available2024-06-12T11:01:45Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBackground: We sought to determine the incidence of Fabry disease (FD) in young cryptogenic stroke patients who lived in the City of Edirne, Turkey, and to define the clinical features helping to recognize patients with FD. Methods: Acute ischemic stroke patients aged 18 to 55 years who were admitted to our hospital between January 2017 and September 2019 were evaluated for inclusion. The screening was performed for alpha-galactosidase A activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low-plasma alpha-galactosidase A activity. Results: Two proband cases were detected. The first proband patient was identified as having a 427G>A (rs 104894845) (p.A143T) hemizygous mutation along with his family; 3 patients were identified as having the same hemizygous mutation; and 6 patients were identified as having the same heterozygous mutations. The second proband patient was identified as having a c.352C>T (rs 148158093) (p.R118C) heterozygote mutation along with her family; 5 patients were identified as having the same heterozygote mutation; and 1 patient was identified as having the same hemizygous mutation. Our study identified the FD incidence as 3.27%. Conclusions: This research is just one of a few studies conducted on FD screening studies in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients, as it is a rare but potentially treatable entity.en_US
dc.identifier.doi10.1097/NRL.0000000000000326
dc.identifier.endpage131en_US
dc.identifier.issn1074-7931
dc.identifier.issn2331-2637
dc.identifier.issue4en_US
dc.identifier.pmid34190205en_US
dc.identifier.scopus2-s2.0-85110200367en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage125en_US
dc.identifier.urihttps://doi.org/10.1097/NRL.0000000000000326
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21003
dc.identifier.volume26en_US
dc.identifier.wosWOS:000671361300003en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofNeurologisten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFabry Diseaseen_US
dc.subjectYoung Strokeen_US
dc.subjectIncidenceen_US
dc.subjectRisk Factorsen_US
dc.subjectClinical Assessmenten_US
dc.subjectAcute Ischemic-Strokeen_US
dc.subjectPrevalenceen_US
dc.subjectDiagnosisen_US
dc.titleFabry Disease Frequency Among Young Cryptogenic Stroke Patients in the City of Edirne, Turkeyen_US
dc.typeArticleen_US

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