Document Detail


A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family.
MedLine Citation:
PMID:  23319290     Owner:  NLM     Status:  Publisher    
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:  JOURNAL ARTICLE     Date:  2013-1-15
Journal Detail:
Title:  Acta neurologica Belgica     Volume:  -     ISSN:  0300-9009     ISO Abbreviation:  Acta Neurol Belg     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0247035     Medline TA:  Acta Neurol Belg     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Neurology Clinic, Faculty of Medicine, University of Belgrade, Dr Subotica 6, 11000, Belgrade, Serbia, aleksandrapavlovic@hotmail.com.
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