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

E Navarro1, F Díaz, L Muñoz

  • 1Servicio de Neurología. Hospital General Universitario Gregorio Marañón. Madrid. España. enavarrom@medynet.com

Neurologia (Barcelona, Spain)
|October 25, 2002
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder affecting brain blood vessels. Diagnosis involves genetic testing and skin biopsy, but effective treatments are currently unavailable.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Context:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary condition.
  • It is characterized by mutations in the Notch3 gene on chromosome 19.
  • This leads to the accumulation of osmiophilic granular material (GOM) in cerebral arteries.

Purpose:

  • To describe the pathophysiology, clinical manifestations, and diagnostic methods for CADASIL.
  • To highlight the systemic nature of GOM deposits.
  • To emphasize the current lack of effective treatments.

Summary:

  • CADASIL results from Notch3 gene mutations, causing GOM accumulation in cerebral arteries, leading to vessel narrowing.
  • Clinical features include migraines, strokes, vascular dementia, and neuropsychiatric disorders, often accompanied by leukoencephalopathy visible on MRI.
  • GOM deposits are systemic and can be detected in skin biopsies; molecular genetic testing confirms the diagnosis.

Impact:

  • Improves understanding of CADASIL's genetic basis and pathology.
  • Facilitates accurate diagnosis through genetic and ultrastructural analysis.
  • Underscores the urgent need for therapeutic strategies for this debilitating neurological disorder.

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