title: 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.
authors: Neurology Clinic, Faculty of Medicine, University of Belgrade, Dr Subotica 6, 11000, Belgrade, Serbia. aleksandrapavlovic@hotmail.com
authors: Aleksandra M
authors: AM
authors: Pavlovic
authors: V
authors: V
authors: Dobricic
authors: R
authors: R
authors: Semnic
authors: V
authors: V
authors: Lackovic
authors: I
authors: I
authors: Novakovic
authors: M
authors: M
authors: Bajcetic
authors: N
authors: N
authors: Sternic
mesh_terms: D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D055771:Serbia
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D003545:Cysteine; D005998:Glycine