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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Arabs

Saeed A Bohlega1, Khaled K Abu-Amero

  • 1Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, PO Box 3354, MBC 76, Riyadh 11211, Kingdom of Saudi Arabia. boholega@kshrc.edu.sa

Saudi Medical Journal
|July 16, 2008
PubMed

Insights

This study examined Arab families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Surprisingly, no Notch 3 gene mutations were found, despite typical disease indicators.

Area of Science:

  • Genetics
  • Neurology
  • Vascular Biology

Background:

  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukencephalopathy (CADASIL) is a rare inherited cerebrovascular disorder.
  • It typically presents with early-onset stroke, cognitive decline, and psychiatric disturbances.
  • Notch 3 gene mutations are the established cause of CADASIL.

Purpose of the Study:

  • To identify the spectrum of Notch 3 mutations in Arab patients diagnosed with CADASIL.
  • To investigate genetic variations in Arab populations affected by this inherited cerebrovascular disease.

Main Methods:

  • Neurological assessments and Notch 3 gene sequencing were performed on two Arab families.
  • Brain biopsies were analyzed for characteristic pathological findings.
  • Magnetic Resonance Imaging (MRI) was used to evaluate brain abnormalities.

Main Results:

  • The affected individuals exhibited classic CADASIL symptoms including stroke, vascular dementia, and psychiatric issues.
  • MRI revealed abnormalities in both symptomatic and asymptomatic individuals.
  • Despite thorough screening of all Notch 3 exons, no known or novel mutations were identified in either family. However, one family showed typical pathological features on brain biopsy.

Conclusions:

  • These cases represent the first documented instances of CADASIL in Arab patients presenting without identifiable Notch 3 gene mutations.
  • The findings suggest potential alternative genetic or etiological factors contributing to CADASIL in this population.
  • Further research is warranted to explore the genetic basis of CADASIL in Arabs.
Abstract

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