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Clinical and Radiological Features in CADASIL and NOTCH3-Negative Patients: A Multicenter Study from Turkey

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dc.contributor.authorMİDİ, İPEK
dc.contributor.authorsInce, Birsen; Benbir, Gulcin; Siva, Aksel; Saip, Sabahattin; Utku, Ufuk; Celik, Yahya; Necioglu-Orken, Dilek; Ozturk, Serefnur; Afsar, Nazire; Aktan, Sevinc; Asil, Talip; Bakac, Goksel; Ekmekci, Hakan; Gokce, Mustafa; Krespi, Yakup; Midi, Lpek; Varlibas, Figen; Citci-Yalcinkaya, Beyza; Goksan, Baki; Uluduz, Derya; Uyguner, Oya
dc.date.accessioned2022-03-13T12:46:55Z
dc.date.available2022-03-13T12:46:55Z
dc.date.issued2014
dc.description.abstractBackground: The diversity of clinical presentation and neuroimaging findings of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) from different regions of the world has not yet been studied in depth. Here we investigated the variability of clinical, radiological and genetic data of 48 patients analyzed for NOTCH3 mutation in Turkey. Methods: Clinical evaluation was made according to a preformed questionnaire. Cranial neuroimaging findings were determined on the basis of T1, T2, FLAIR and proton-density magnetic resonance scans. For genetic analysis, polymerase chain reaction was performed with primers flanking exons 2-6 and 11 of NOTCH3 gene. Results:Twenty-five patients (52.1%) were diagnosed as CADASIL with NOTCH3 mutation, while 23 patients (47.9%) had no mutation (NOTCH3-negative patients). The mean age and age at stroke onset were lower in male CADASIL patients (p < 0.03). A family history of migraine (p = 0.012), stroke (p < 0.001), recurrent strokes (p = 0.020) and dementia (p = 0.012) was more common in CADASIL patients. Temporal pole involvement was more common in CADASIL patients (p = 0.004). Conclusion: It is of clinical importance to identify the heterogeneity of CADASIL from different countries due to a low correlation of clinical and radiological data with respect to NOTCH3 mutation. (C) 2014 S. Karger AG, Basel
dc.identifier.doi10.1159/000360530
dc.identifier.eissn1421-9913
dc.identifier.issn0014-3022
dc.identifier.pubmed25095812
dc.identifier.urihttps://hdl.handle.net/11424/237997
dc.identifier.wosWOS:000343381000001
dc.language.isoeng
dc.publisherKARGER
dc.relation.ispartofEUROPEAN NEUROLOGY
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCADASIL
dc.subjectNOTCH3-negative patients
dc.subjectRadiological features
dc.subjectAUTOSOMAL-DOMINANT ARTERIOPATHY
dc.subjectNOTCH3 GENE-MUTATIONS
dc.subjectSUBCORTICAL INFARCTS
dc.subjectSELECT PATIENTS
dc.subjectSCREENING TOOL
dc.subjectLEUKOENCEPHALOPATHY
dc.subjectPATTERNS
dc.subjectFAMILIES
dc.subjectSPECTRUM
dc.subjectSTROKE
dc.titleClinical and Radiological Features in CADASIL and NOTCH3-Negative Patients: A Multicenter Study from Turkey
dc.typearticle
dspace.entity.typePublication
local.avesis.idb9004855-d0a9-4cb1-abc6-3872015209ee
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.journal.numberofpages7
oaire.citation.endPage131
oaire.citation.issue3-4
oaire.citation.startPage125
oaire.citation.titleEUROPEAN NEUROLOGY
oaire.citation.volume72
relation.isAuthorOfPublicationa436ba9b-29cc-4170-b37f-ba8e767e9c59
relation.isAuthorOfPublication.latestForDiscoverya436ba9b-29cc-4170-b37f-ba8e767e9c59

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