A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

Aleksandra M. Pavlovic, V. Dobricic, R. Semnic, V. Lackovic, I. Novakovic, M. Bajcetic, N. Sternic

2 Citations (Scopus)


Cerebral 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.

Original languageEnglish
JournalActa Neurologica Belgica
Issue number3
Pages (from-to)299-302
Number of pages4
Publication statusPublished - 09.2013


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