eISSN: 1509-572x
ISSN: 1641-4640
Folia Neuropathologica
Current issue Archive Manuscripts accepted About the journal Editorial board Journal's reviewers Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures
SCImago Journal & Country Rank
 
4/2006
vol. 44
 
Share:
Share:
more
 
 
abstract:

Original article
Ultrastructural picture of blood vessels in muscle and skin biopsy in CADASIL

Eliza Lewandowska
,
Anna Leszczyńska
,
Teresa Wierzba-Bobrowicz
,
Marta Skowrońska
,
Hanna Mierzewska
,
Elżbieta Pasennik

Folia Neuropathol 2006; 44 (4): 265–273
Online publish date: 2006/12/07
View full text
Get citation
ENW
EndNote
BIB
JabRef, Mendeley
RIS
Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
 
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) is an inherited systemic vascular disorder affecting mainly the central nervous system. We performed detailed ultrastructural examination of the small vessels in the skin and skeletal muscle of a 51-year-old patient with bilateral cerebral white matter lesions, who had a history of two ischaemic strokes. The arterioles were characterized by degeneration and loss of vascular smooth muscle cells (VSMCs). GOM deposits, varied in size and shape, were located in the neighbourhood of the smooth muscle cells, often within an infolding of the cell membrane. No apparent correlations between presence, size or number of GOM deposits and damage severity of vascular smooth muscle cells were seen. Moreover, in some capillaries there were GOM deposits which were seen in the basement membrane near pericytes and endothelial cells. On the other hand, lesions of VMSCs and/or endothelial cells were also visible on the sections of blood vessels devoid of GOM deposits. Genetic tests detected a mutation in exon 4 of the Notch3 gene. It confirmed the initial diagnosis which had been suggested on the basis of the clinical and MRI findings.
keywords:

CADASIL, GOM, arterioles, capillaries, vascular smooth muscle cells, ultrastructure

Quick links
© 2021 Termedia Sp. z o.o. All rights reserved.
Developed by Bentus.