Document Detail

The spectrum of mutations for CADASIL diagnosis.
MedLine Citation:
PMID:  15995828     Owner:  NLM     Status:  MEDLINE    
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations of the Notch3 gene at the chromosome locus 19p13. The clinical spectrum includes recurrent ischaemic episodes, cognitive deficits, migraine and psychiatric disorders. The histopathological hallmark of CADASIL is accumulation of electron dense granules (GOM) in the media of arterioles. MRI reveals extensive cerebral white matter lesions and subcortical infarcts. CADASIL was initially thought to be a rare disorder, but increasing numbers of families have been identified; therefore, it is likely that CADASIL is still largely underdiagnosed. Here we report an update on mutations of the Notch3 gene and some information on the pathogenesis of the disease.
A Federico; S Bianchi; M T Dotti
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology     Volume:  26     ISSN:  1590-1874     ISO Abbreviation:  Neurol. Sci.     Publication Date:  2005 Jun 
Date Detail:
Created Date:  2005-07-04     Completed Date:  2005-08-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  100959175     Medline TA:  Neurol Sci     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  117-24     Citation Subset:  IM    
Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, I-53100 Siena, Italy.
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MeSH Terms
Brain / pathology
CADASIL / diagnosis*,  genetics*
Cerebral Infarction / pathology
Diagnosis, Differential
Magnetic Resonance Imaging / methods
Molecular Biology / methods
Proto-Oncogene Proteins / genetics*
Receptors, Cell Surface / genetics*
Receptors, Notch
Reg. No./Substance:
0/NOTCH3 protein, human; 0/Proto-Oncogene Proteins; 0/Receptors, Cell Surface; 0/Receptors, Notch

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