Document Detail


A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family.
MedLine Citation:
PMID:  23319290     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Aleksandra M Pavlovic; V Dobricic; R Semnic; V Lackovic; I Novakovic; M Bajcetic; N Sternic
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-15
Journal Detail:
Title:  Acta neurologica Belgica     Volume:  113     ISSN:  2240-2993     ISO Abbreviation:  Acta Neurol Belg     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-08-30     Completed Date:  2014-05-07     Revised Date:  2014-06-30    
Medline Journal Info:
Nlm Unique ID:  0247035     Medline TA:  Acta Neurol Belg     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  299-302     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Brain / pathology
CADASIL / genetics*
Cysteine / genetics*
Family Health
Female
Genetic Testing
Glycine / genetics*
Humans
Magnetic Resonance Imaging
Middle Aged
Mutation / genetics*
Receptors, Notch / genetics*
Serbia
Chemical
Reg. No./Substance:
0/NOTCH3 protein, human; 0/Receptors, Notch; K848JZ4886/Cysteine; TE7660XO1C/Glycine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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