Mutation in the methylenetetrahydrofolate reductase gene might be a risk factor for cerebrovascular disease in peripartum and under oral contraceptive use

Eur Neurol. 2001;45(3):171-3. doi: 10.1159/000052117.

Abstract

Nine women (age 22-43 years) with cerebrovascular diseases (CVD) related to pregnancy, puerperium or contraceptive use were studied. Five were pregnant, 2 were post partum and 2 were taking oral contraceptives. All under- went a complete etiological examination including assessment for the thermolabile C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene mutation. Three of the 9 patients were homozygotic for the C677T MTHFR mutation, and 3 were heterozygotic. In these 6 patients, no other etiology could be found. Mutation in the thermolabile MTHFR gene might be an important cause for CVD related to peripartum or contraceptive use.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Cerebrovascular Disorders / genetics*
  • Contraceptives, Oral / adverse effects*
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Mutation / genetics*
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Postpartum Period*
  • Pregnancy
  • Pregnancy Complications*
  • Risk Factors

Substances

  • Contraceptives, Oral
  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)