CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor

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dc.authoridWollnik, Bernd/0000-0003-2589-0364
dc.authoridUYGUNER, OYA Zehra/0000-0002-2035-4338
dc.authorwosidWollnik, Bernd/GRY-6062-2022
dc.authorwosidUYGUNER, OYA Zehra/Y-3899-2018
dc.contributor.authorUtku, U
dc.contributor.authorCelik, Y
dc.contributor.authorUyguner, O
dc.contributor.authorYüksel-Apak, M
dc.contributor.authorWollnik, B
dc.date.accessioned2024-06-12T10:55:27Z
dc.date.available2024-06-12T10:55:27Z
dc.date.issued2002
dc.departmentTrakya Üniversitesien_US
dc.description.abstractMutations in the Notch3 gene are the cause of the autosomal dominant disorder CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The CADASIL is an adult-onset neurologic disorder (average age of onset is 45 years) characterized by recurrent strokes and dementia. Clinical features combined with cerebral magnetic resonance imaging (MRI), showing a diffuse leukoencephalopathy with subcortical infarcts in the basal ganglia and white matter, are highly contributive to the diagnosis. We present a Turkish family with CADASIL, in which 12 individuals in four generations were affected showing the typical clinical features of recurrent strokes. Mutation analysis of the Notch3 receptor gene identified the recently described R90C mutation in the N-terminal part of the gene in affected individuals. Interestingly, migraine without aura was found as an initial symptom of the disease in two young mutation carriers (22 and 25 years, respectively), who did not show any additional clinical features or any MRI abnormalities. This indicates that migraine without aura in the absence of MRI abnormalities may represent an early initial symptom of CADASIL, which is difficult to diagnose in the absence of molecular diagnosis. Therefore, the used molecular screening method for Notch3 mutations provides a rapid and accurate diagnostic tool in addition to the standard diagnostic procedures.en_US
dc.identifier.doi10.1046/j.1468-1331.2002.00344.x
dc.identifier.endpage28en_US
dc.identifier.issn1351-5101
dc.identifier.issue1en_US
dc.identifier.pmid11784372en_US
dc.identifier.scopus2-s2.0-0036393522en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage23en_US
dc.identifier.urihttps://doi.org/10.1046/j.1468-1331.2002.00344.x
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19428
dc.identifier.volume9en_US
dc.identifier.wosWOS:000173544400005en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherBlackwell Publishing Ltden_US
dc.relation.ispartofEuropean Journal Of Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCADASIL Syndromeen_US
dc.subjectClinical Evaluationen_US
dc.subjectMigraineen_US
dc.subjectMutation Screeningen_US
dc.subjectNotch3 Receptoren_US
dc.subjectFamiliesen_US
dc.subjectDementiaen_US
dc.subjectGeneen_US
dc.subjectMigraineen_US
dc.subjectMrien_US
dc.titleCADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptoren_US
dc.typeArticleen_US

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