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A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

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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Acknowledgments

This work has been supported by the Ministry of Science and Technological Development of Serbia (Scientific Project No. 175022, 175091 and 41002). The authors would like to thank Dr Christen D Barras from the Department of Radiology, Royal Melbourne Hospital, Melbourne, Australia, and Gordana Tomic, PhD from the Clinic for Neurology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia for their valuable help with the manuscript.

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Correspondence to Aleksandra M. Pavlovic.

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Pavlovic, A.M., Dobricic, V., Semnic, R. et al. A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family. Acta Neurol Belg 113, 299–302 (2013). https://doi.org/10.1007/s13760-012-0174-2

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  • DOI: https://doi.org/10.1007/s13760-012-0174-2

Keywords

  • CADASIL
  • Exon 3
  • Notch3
  • Stroke
  • White matter lesions