Document Detail

A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene.
MedLine Citation:
PMID:  11718749     Owner:  NLM     Status:  MEDLINE    
The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is usually confirmed by genetic testing or skin biopsy. We here report the case of a 69-year-old woman with recurrent transient ischemic attacks (TIAs) and strokes, seizures, and dementia without any mutations in exons 3 and 4 of the Notch3 gene and with a normal skin biopsy, but who showed characteristic CADASIL abnormalities on brain pathological examination. Our findings suggest that negative results in these two tests do not exclude the disease and a leptomeningeal biopsy or a second skin biopsy should be considered in such cases.
G R de Freitas; J Miklossy; S Christen-Zäch; M Reichhart; J Bogousslavsky
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  193     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  2001 Dec 
Date Detail:
Created Date:  2001-11-23     Completed Date:  2002-02-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  43-7     Citation Subset:  IM    
Department of Neurology, Centre Hospitalier Universitaire Vaudois, CH1011, Lausanne, Switzerland.
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MeSH Terms
Brain / pathology,  ultrastructure
Cerebral Arteries / pathology,  ultrastructure
DNA Mutational Analysis
Dementia, Multi-Infarct / genetics,  pathology*
Diagnosis, Differential
Muscle, Smooth, Vascular / pathology,  ultrastructure
Mutation / genetics*
Proto-Oncogene Proteins / genetics*
Receptors, Cell Surface*
Receptors, Notch
Skin / pathology*
Reg. No./Substance:
0/NOTCH3 protein, human; 0/Proto-Oncogene Proteins; 0/Receptors, Cell Surface; 0/Receptors, Notch

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