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A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

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dc.contributor.authorPavlovic, Aleksandra M. (7003808508)
dc.contributor.authorDobricic, V. (22952783800)
dc.contributor.authorSemnic, R. (6701842753)
dc.contributor.authorLackovic, V. (35754725400)
dc.contributor.authorNovakovic, I. (6603235567)
dc.contributor.authorBajcetic, M. (24830364600)
dc.contributor.authorSternic, N. (6603691178)
dc.date.accessioned2025-06-12T21:21:23Z
dc.date.available2025-06-12T21:21:23Z
dc.date.issued2013
dc.description.abstractCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing. © 2013 Belgian Neurological Society.
dc.identifier.urihttps://doi.org/10.1007/s13760-012-0174-2
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84883393935&doi=10.1007%2fs13760-012-0174-2&partnerID=40&md5=3c2688e68142668e6d2525fe7829d55c
dc.identifier.urihttps://remedy.med.bg.ac.rs/handle/123456789/9262
dc.subjectCADASIL
dc.subjectExon 3
dc.subjectNotch3
dc.subjectStroke
dc.subjectWhite matter lesions
dc.titleA novel Notch3 Gly89Cys mutation in a Serbian CADASIL family
dspace.entity.typePublication

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