{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T09:26:44Z","timestamp":1793957204977,"version":"4.8.0"},"reference-count":24,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","msard-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Multiple Sclerosis and Related Disorders"],"published-print":{"date-parts":[[2026,11]]},"DOI":"10.1016\/j.msard.2026.107942","type":"journal-article","created":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T07:17:21Z","timestamp":1790320641000},"page":"107942","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["GLA variant screening in patients with suspected demyelinating disease: Diagnostic yield and implications for the differential diagnosis of multiple sclerosis"],"prefix":"10.1016","volume":"115","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6898-0469","authenticated-orcid":false,"given":"Asl\u0131","family":"Aksoy G\u00fcndo\u011fdu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilcan","family":"Kotan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.msard.2026.107942_bib0001","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200271","article-title":"A retrospective cohort study of the GLA c.937G>T, p.Asp313Tyr variant with no evidence of an association with Fabry disease","volume":"11","author":"Boettcher","year":"2025","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.msard.2026.107942_bib0002","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0071894","article-title":"Fabry disease\u2014Underestimated in the differential diagnosis of multiple sclerosis?","volume":"8","author":"B\u00f6ttcher","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.msard.2026.107942_bib0003","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13023-024-03500-7","article-title":"Clinical management of female patients with Fabry disease based on expert consensus","volume":"20","author":"Brand","year":"2025","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.msard.2026.107942_bib0004","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1007\/s13244-018-0664-8","article-title":"Neuroimaging in Fabry disease: current knowledge and future directions","volume":"9","author":"Cocozza","year":"2018","journal-title":"Insights Imaging"},{"key":"10.1016\/j.msard.2026.107942_bib0005","doi-asserted-by":"crossref","first-page":"7758","DOI":"10.18632\/oncotarget.23970","article-title":"Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs","volume":"9","author":"Colomba","year":"2018","journal-title":"Oncotarget"},{"key":"10.1016\/j.msard.2026.107942_bib0006","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s13023-022-02215-x","article-title":"Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective","volume":"17","author":"Ezgu","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.msard.2026.107942_bib0007","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1111\/cge.14102","article-title":"Challenging the traditional approach for interpreting genetic variants: lessons from Fabry disease","volume":"101","author":"Germain","year":"2022","journal-title":"Clin. Genet."},{"key":"10.1016\/j.msard.2026.107942_bib0008","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2024.1415906","article-title":"Case report: first diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis","volume":"15","author":"Gjorgjievski","year":"2024","journal-title":"Front. Genet."},{"key":"10.1016\/j.msard.2026.107942_bib0009","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1016\/j.jstrokecerebrovasdis.2017.02.004","article-title":"The frequency of Fabry disease among young cryptogenic stroke patients in the city of Sakarya","volume":"26","author":"G\u00fcndo\u011fdu","year":"2017","journal-title":"J. Stroke Cerebrovasc. Dis."},{"key":"10.1016\/j.msard.2026.107942_bib0010","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.ymgme.2018.08.014","article-title":"Development and clinical consequences of white matter lesions in Fabry disease: a systematic review","volume":"125","author":"K\u00f6rver","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.msard.2026.107942_bib0011","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.msard.2026.107942_bib0012","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003632","article-title":"Functional characterisation of alpha-galactosidase A mutations as a basis for a new classification system in Fabry disease","volume":"9","author":"Lukas","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.msard.2026.107942_bib0013","doi-asserted-by":"crossref","DOI":"10.1016\/j.msard.2025.106439","article-title":"Genetic diseases misdiagnosed as multiple sclerosis: observational study and review of literature","volume":"99","author":"Mandia","year":"2025","journal-title":"Mult. Scler. Relat. Disord."},{"key":"10.1016\/j.msard.2026.107942_bib0014","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/j.amjms.2020.07.011","article-title":"When and how to diagnose Fabry disease in clinical practice","volume":"360","author":"Michaud","year":"2020","journal-title":"Am. J. Med. Sci."},{"key":"10.1016\/j.msard.2026.107942_bib0015","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbagen.2019.129437","article-title":"Progress in the understanding and treatment of Fabry disease","volume":"1864","author":"Miller","year":"2020","journal-title":"Biochim. Biophys. Acta Gen. Subj."},{"key":"10.1016\/j.msard.2026.107942_bib0016","article-title":"Impact of GLA variant classification on the estimated prevalence of Fabry disease: a systematic review and meta-analysis of screening studies","volume":"16","author":"Monda","year":"2023","journal-title":"Circ. Genom. Precis. Med."},{"key":"10.1016\/j.msard.2026.107942_bib0017","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000201102","article-title":"D313Y variant in Fabry disease: a systematic review and meta-analysis","volume":"99","author":"Palaiodimou","year":"2022","journal-title":"Neurology"},{"key":"10.1016\/j.msard.2026.107942_bib0018","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s13023-022-02187-y","article-title":"Neuroradiological differentiation of white matter lesions in patients with multiple sclerosis and Fabry disease","volume":"17","author":"Rath","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.msard.2026.107942_bib0019","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s10072-023-06962-y","article-title":"Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?","volume":"45","author":"Rekova","year":"2024","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.msard.2026.107942_bib0020","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.msard.2026.107942_bib0021","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S1474-4422(23)00148-5","article-title":"Differential diagnosis of suspected multiple sclerosis: an updated consensus approach","volume":"22","author":"Solomon","year":"2023","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.msard.2026.107942_bib0022","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1007\/s10072-022-06533-7","article-title":"How relevant are cerebral white matter lesions in the D313Y variant of the \u03b1-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years","volume":"44","author":"Strunk","year":"2023","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.msard.2026.107942_bib0023","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/S1474-4422(17)30470-2","article-title":"Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria","volume":"17","author":"Thompson","year":"2018","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.msard.2026.107942_bib0024","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/S0140-6736(07)61602-X","article-title":"The strengthening the reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies","volume":"370","author":"von Elm","year":"2007","journal-title":"Lancet"}],"container-title":["Multiple Sclerosis and Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2211034826009776?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2211034826009776?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T08:39:15Z","timestamp":1793954355000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2211034826009776"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,11]]},"references-count":24,"alternative-id":["S2211034826009776"],"URL":"https:\/\/doi.org\/10.1016\/j.msard.2026.107942","relation":{},"ISSN":["2211-0348"],"issn-type":[{"value":"2211-0348","type":"print"}],"subject":[],"published":{"date-parts":[[2026,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"GLA variant screening in patients with suspected demyelinating disease: Diagnostic yield and implications for the differential diagnosis of multiple sclerosis","name":"articletitle","label":"Article Title"},{"value":"Multiple Sclerosis and Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.msard.2026.107942","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"107942"}}