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Updated: May 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family
Aleksandra M Pavlovic1, V Dobricic, R Semnic
1Neurology Clinic, Faculty of Medicine, University of Belgrade, Dr Subotica 6, 11000, Belgrade, Serbia. aleksandrapavlovic@hotmail.com
Abstract:
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.
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