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

Otfried M Debus1, Andrea Kosch, Ronald Sträter

  • 1University Children's Hospital Münster, Department of Neuropediatrics, Germany. debuso@uni-muenster.de

Annals of Neurology
|August 5, 2004
PubMed

Insights

The factor V (FV) G1691A mutation and multiple prothrombotic factors are significantly linked to childhood porencephaly. These findings highlight key genetic and combined risk factors in the development of this neurological condition.

Area of Science:

  • Neurology
  • Pediatrics
  • Genetics

Background:

  • Porencephaly is a rare neurological disorder characterized by cystic lesions in the cerebral hemispheres.
  • The etiology of porencephaly is not fully understood, but genetic and environmental factors are suspected.
  • Prothrombotic risk factors have been implicated in various cerebrovascular diseases.

Purpose of the Study:

  • To investigate the association between specific prothrombotic risk factors and the occurrence of porencephaly in children.
  • To identify potential genetic predispositions contributing to the development of porencephaly.

Main Methods:

  • A case-control study comparing 76 children with porencephaly to 76 healthy infants.
  • Genetic analysis for factor V (FV) G1691A mutation, factor II G20210A variant, and methylenetetrahydrofolate reductase (MTHFR) C677T genotype.
  • Biochemical assays for lipoprotein (a), protein C, protein S, and antithrombin levels.

Main Results:

  • The factor V (FV) G1691A mutation was significantly associated with porencephaly (p = 0.005).
  • Combinations of two or three different prothrombotic risk factors showed a significant association with porencephaly (p = 0.003).
  • No significant association was found for factor II G20210A variant, MTHFR C677T genotype, lipoprotein (a), protein C, protein S, or antithrombin individually.

Conclusions:

  • The FV G1691A mutation is a significant risk factor in the development of childhood porencephaly.
  • The presence of multiple prothrombotic factors further increases the risk, suggesting a multifactorial etiology.
  • These findings underscore the role of thrombophilia in the pathogenesis of porencephaly and may inform future diagnostic and therapeutic strategies.

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