Genetic and clinical characteristics of Moyamoya disease in Europeans

Acta Neurochir Suppl. 2011;112:31-4. doi: 10.1007/978-3-7091-0661-7_6.


The European form of Moyamoya disease clearly differs from the Asian form. Clinically the timing of vasculopathy onset and a lower rate of hemorrhage are striking as compared to the Asian Moyamoya disease.Single nucleotide polymorphisms that play a role in atherosclerosis, vascular growth and transformation processes have been found to be associated with the European form. Candidate gene associations found in Asian patients could not be replicated in European patients.To elucidate the characteristics, we describe the clinical features as well as the genetic findings that we have found in our combined cohorts of European patients.

Publication types

  • Multicenter Study

MeSH terms

  • Actins / genetics
  • Europe / epidemiology
  • Genetic Predisposition to Disease*
  • Health Surveys
  • Humans
  • Moyamoya Disease / epidemiology*
  • Moyamoya Disease / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Receptor, Platelet-Derived Growth Factor beta / genetics
  • Transforming Growth Factor beta1 / genetics


  • ACTA2 protein, human
  • Actins
  • TGFB1 protein, human
  • Transforming Growth Factor beta1
  • Receptor, Platelet-Derived Growth Factor beta