Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis

Acta Neurol Scand. 1998 Oct;98(4):259-67. doi: 10.1111/j.1600-0404.1998.tb07306.x.

Abstract

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.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Analysis of Variance
  • Biopsy, Needle
  • Brain / pathology*
  • Cells, Cultured / metabolism
  • Cerebral Arterial Diseases / genetics
  • Cerebral Arterial Diseases / metabolism
  • Cerebral Arterial Diseases / pathology*
  • Cerebral Arteries / ultrastructure
  • Cerebral Infarction / genetics
  • Cerebral Infarction / metabolism
  • Cerebral Infarction / pathology*
  • Collagen / ultrastructure
  • Elastin / analysis*
  • Elastin / biosynthesis
  • Elastin / genetics
  • Female
  • Fibroblasts / metabolism
  • Fibronectins / analysis
  • Follow-Up Studies
  • Humans
  • Immunohistochemistry
  • Ischemic Attack, Transient / genetics
  • Ischemic Attack, Transient / metabolism
  • Ischemic Attack, Transient / pathology
  • Leukoencephalopathy, Progressive Multifocal / genetics
  • Leukoencephalopathy, Progressive Multifocal / metabolism
  • Leukoencephalopathy, Progressive Multifocal / pathology*
  • Male
  • Microscopy, Electron
  • Middle Aged
  • RNA, Messenger / analysis
  • Reference Values
  • Skin / metabolism
  • Skin / pathology*
  • Syndrome

Substances

  • Fibronectins
  • RNA, Messenger
  • Collagen
  • Elastin