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Moyamoya disease: a review of histopathology, biochemistry, and genetics

David G Weinberg1, Omar M Arnaout, Rudy J Rahme

  • 1Department of Neurological Surgery, Feinberg School of Medicine, and McGaw Medical Center, Northwestern University, Chicago, Illinois 60611, USA.

Neurosurgical Focus
|June 3, 2011
PubMed
Abstract

Insights

Moyamoya disease involves vessel stenosis and aberrant networks. Key proteins like VEGF and genetic factors on specific chromosomes are implicated in its complex pathophysiology.

Area of Science:

  • Cerebrovascular disorders
  • Neuroscience
  • Genetics

Background:

  • Moyamoya disease (MMD) is a rare cerebrovascular condition.
  • It involves stenosis of the circle of Willis and its branches.
  • The exact pathophysiology remains incompletely understood.

Purpose of the Study:

  • To review current knowledge on MMD.
  • Focus on histopathology, pathophysiology, and genetics.
  • Identify key proteins and genetic factors involved.

Main Methods:

  • Systematic literature review using PubMed/Medline.
  • Analysis of 45 articles on MMD pathophysiology.
  • Synthesis of findings on disease mechanisms and genetics.

Main Results:

  • MMD features intimal thickening and media attenuation in proximal vessels.
  • An aberrant distal vascular network develops.
  • Key implicated proteins include VEGF, bFGF, HGF, TGFβ₁, and G-CSF.

Conclusions:

  • MMD pathophysiology involves specific protein pathways.
  • Familial MMD suggests low penetrance autosomal dominant or polygenic inheritance.
  • Genetic loci on chromosomes 3, 6, 8, 12, and 17 are implicated.

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