A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

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 MR...

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Bibliographic Details
Published inActa neurologica Belgica Vol. 113; no. 3; pp. 299 - 302
Main Authors Pavlovic, Aleksandra M., Dobricic, V., Semnic, R., Lackovic, V., Novakovic, I., Bajcetic, M., Sternic, N.
Format Journal Article
LanguageEnglish
Published Milan Springer Milan 01.09.2013
Subjects
Biomedical and Life Sciences
Biomedicine
Brain - pathology
CADASIL - genetics
Cysteine - genetics
Family Health
Female
Genetic Testing
Glycine - genetics
Humans
Magnetic Resonance Imaging
Medicine/Public Health
Middle Aged
Mutation - genetics
Neurology
Neuroradiology
Neurosciences
Original Article
Receptor, Notch3
Receptors, Notch - genetics
Serbia
White matter lesions
Exon 3
CADASIL
Stroke
Notch3
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Summary: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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ISSN:0300-9009
2240-2993
DOI:10.1007/s13760-012-0174-2