title: Mutation in the methylenetetrahydrofolate reductase gene might be a risk factor for cerebrovascular disease in peripartum and under oral contraceptive use.
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.
authors: Neurological Service, Bikur Cholim Hospital, Jerusalem, Israel. ikl@md2.huji.ac.il
authors: I
authors: I
authors: Korn-Lubetzki
authors: S
authors: S
authors: Gillis
authors: I
authors: I
authors: Steiner
mesh_terms: D000328:Adult; D017668:Age of Onset; D002561:Cerebrovascular Disorders / Q000235:genetics*; D003276:Contraceptives, Oral / Q000009:adverse effects*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D049590:Postpartum Period; D011247:Pregnancy; D011248:Pregnancy Complications; D012307:Risk Factors
chemical_list: D003276:Contraceptives, Oral; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)