The factor V G1691A mutation is a risk for porencephaly: A case-control study

Ann Neurol. 2004 Aug;56(2):287-90. doi: 10.1002/ana.20184.

Abstract

This study was initiated to investigate prothrombotic risk factors in children with porencephaly. 76 porencephalic and 76 healthy infants were investigated for factor V (FV) G1691A mutation, factor II G20210A variant, methylenetetrahydrofolate reductase (MTHFR) C677T genotype, lipoprotein (a), protein C, protein S, and antithrombin. Only the FV mutation (p = 0.005) and combinations of two or three different risk factors (p = 0.003) were significantly associated with porencephaly. These data give evidence that the FV G1691A mutation and a combination of prothromboic factors play a major role in the development of childhood porencephaly.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine / genetics
  • Brain Diseases / epidemiology
  • Brain Diseases / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • Child
  • Factor V / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Glycine / genetics
  • Humans
  • Infant
  • Male
  • Multivariate Analysis
  • Mutation*
  • Prothrombin / genetics
  • Retrospective Studies
  • Risk
  • Risk Factors

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin
  • Alanine
  • Glycine