Document Detail

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis.
MedLine Citation:
PMID:  9808276     Owner:  NLM     Status:  MEDLINE    
This study was performed on a family of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) subjects. Neuropathological alterations of small arteries consisting in thickening, reduplication and fragmentation of the internal elastic lamella, and granular periodic acid-Schiff-positive material deposited in the arterial media were demonstrated in 1 autopsy case by histochemistry and electron microscopy. This material reacted with a monoclonal antibody anti-elastin (aE), as demonstrated by immunohistochemistry and immunoelectron microscopy. Significant increases of aE-immunoreactivity and elastin mRNA expression were found in cultured skin fibroblasts from 5 family members genetically affected by CADASIL, but not genetically and clinically healthy members. These results suggest that alterations of the elastic apparatus are associated with CADASIL genotype and related to the clinical expression of the disease.
B Caronti; L Calandriello; A Francia; L Scorretti; M Manfredi; T Sansolini; E M Pennisi; C Calderaro; G Palladini
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta neurologica Scandinavica     Volume:  98     ISSN:  0001-6314     ISO Abbreviation:  Acta Neurol. Scand.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-01-07     Completed Date:  1999-01-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0370336     Medline TA:  Acta Neurol Scand     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  259-67     Citation Subset:  IM    
Dipartimento di Scienze Neurologiche, Università La Sapienza, Roma, Rome, Italy.
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MeSH Terms
Analysis of Variance
Biopsy, Needle
Brain / pathology*
Cells, Cultured / metabolism
Cerebral Arterial Diseases / genetics,  metabolism,  pathology*
Cerebral Arteries / ultrastructure
Cerebral Infarction / genetics,  metabolism,  pathology*
Collagen / ultrastructure
Elastin / analysis*,  biosynthesis,  genetics
Fibroblasts / metabolism
Fibronectins / analysis
Follow-Up Studies
Ischemic Attack, Transient / genetics,  metabolism,  pathology
Leukoencephalopathy, Progressive Multifocal / genetics,  metabolism,  pathology*
Microscopy, Electron
Middle Aged
RNA, Messenger / analysis
Reference Values
Skin / metabolism,  pathology*
Reg. No./Substance:
0/Fibronectins; 0/RNA, Messenger; 9007-34-5/Collagen; 9007-58-3/Elastin

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

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