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https://open.uns.ac.rs/handle/123456789/9228
Nаziv: | A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family | Аutоri: | Pavlović, Aleksandra Dobricic V. Semnic R. Lackovic V. Novakovic I. Bajcetic M. Sternic N. |
Dаtum izdаvаnjа: | 1-јан-2013 | Čаsоpis: | Acta Neurologica Belgica | Sažetak: | 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. © 2013 Belgian Neurological Society. | URI: | https://open.uns.ac.rs/handle/123456789/9228 | ISSN: | 03009009 | DOI: | 10.1007/s13760-012-0174-2 |
Nаlаzi sе u kоlеkciјаmа: | Naučne i umetničke publikacije |
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