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A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.
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MedLine Citation:
PMID:  12589106     Owner:  NLM     Status:  MEDLINE    
We report a 52-yr-old Korean woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) whose diagnosis was confirmed by skin biopsy and the presence of a novel mutation in the NOTCH3 gene. The patient's clinical features were rather unusual in that 1) clinical presentations were only two episodes of stroke and mild dementia unaccompanied by mood disturbances or migraine, and 2) there was no family history. Brain MRI showed T2 hyperintensities in both temporal pole areas in line with the recent suggestion by O'Sullivan et al. that the abnormality could be a radiologic marker of CADASIL. FDG-PET also showed a hypometabolism in the temporal pole areas with an abnormal finding on MRI in addition to the hypometabolism in cortical and subcortical regions. We could learn from this case that CADASIL may be included in the differential diagnoses in patients with vascular dementia associated with a small vessel disease, even in the absence of a family history, especially when there are no known stroke risk factors and when the MRI shows T2 hyperintensity in the temporal pole regions.
So-Young Moon; Hahn-Young Kim; Jung-Im Seok; Jae-Chul Kwon; Chang-Seok Ki; Jong-Won Kim; Yeon-Lim Suh; Duk L Na
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of Korean medical science     Volume:  18     ISSN:  1011-8934     ISO Abbreviation:  J. Korean Med. Sci.     Publication Date:  2003 Feb 
Date Detail:
Created Date:  2003-02-17     Completed Date:  2003-10-14     Revised Date:  2011-03-16    
Medline Journal Info:
Nlm Unique ID:  8703518     Medline TA:  J Korean Med Sci     Country:  Korea (South)    
Other Details:
Languages:  eng     Pagination:  141-4     Citation Subset:  IM    
Department of Neurology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul, Korea.
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MeSH Terms
Amino Acid Substitution
Brain / pathology
Codon / genetics
Dementia, Multi-Infarct / diagnosis,  genetics*,  pathology,  radionuclide imaging
Magnetic Resonance Imaging
Middle Aged
Mutation, Missense*
Neuropsychological Tests
Point Mutation*
Proto-Oncogene Proteins / genetics*
Receptors, Cell Surface*
Receptors, Notch
Skin / pathology
Tomography, Emission-Computed
Reg. No./Substance:
0/Codon; 0/NOTCH3 protein, human; 0/Proto-Oncogene Proteins; 0/Receptors, Cell Surface; 0/Receptors, Notch

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

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Journal Information
Journal ID (nlm-ta): J Korean Med Sci
Journal ID (pmc): jkms
ISSN: 1011-8934
ISSN: 1598-6357
Publisher: Korean Academy of Medical Sciences
Article Information
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Print publication date: Month: 2 Year: 2003
Volume: 18 Issue: 1
First Page: 141 Last Page: 144
ID: 3055005
PubMed Id: 12589106
Publisher Item Identifier: 200302141

A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.
So-Young Moon Email:
Hahn-Young Kim
Jung-Im Seok
Jae-Chul Kwon
Chang-Seok Ki
Jong-Won Kim
Yeon-Lim Suh
Duk L. Na
Department of Neurology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul, Korea.

Article Categories:
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