[Dominant autosomal cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A review]

Neurologia. 2002 Oct;17(8):410-7.
[Article in Spanish]

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a familial condition caused by a mutation of the Notch3 gen in chromosome 19. Accumulation of osmiophilic granular material (GOM) on the middle layer of small and medium-sized cerebral arteries leads to progressive narrowing of the blood vessels. As a result, clinical findings include migraine, cerebrovascular ischemic events, vascular dementia and a number of neuropsychiatric disorders associated to an extensive leukoencephalopathy readily shown by MRI studies. GOM deposits, however, are systemic and maybe shown ultrastructuraly on skin vessels by means of a biopsy. Detection of mutations of the Notch3 gen by molecular genetics may also allow accurate diagnosis during life. So far, there is no effective treatment for this disorder.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adult
  • Cerebral Arteries / pathology*
  • Chromosomes, Human, Pair 19
  • Dementia, Multi-Infarct* / etiology
  • Dementia, Multi-Infarct* / genetics
  • Dementia, Multi-Infarct* / pathology
  • Dementia, Multi-Infarct* / physiopathology
  • Diagnosis, Differential
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation
  • Risk Factors