ArticleArchive of clinical cases2019
Cerebral vein thrombosis associated with MTHFR A1289C mutation gene in a young postpartum woman.
Article in Archive of clinical cases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Compound heterozygosity with methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations likely causing recurrent thrombotic events in a middle-aged man: a case report.Ewha medical journal · 2026Article
- Arterial and Venous Infarcts: Dual Phenotypes of Dual Heterozygous MTHFR Gene Mutation.Annals of Indian Academy of Neurology · 2025Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebral venous thrombosis is a rare cerebrovascular disease that accounts for approximately 1% of strokes, with an incidence of 3-4 cases / million inhabitants per year, with a significant mortality rate of 10-13%. Pregnancy and puerperal period are physiological states that predispose to thrombosis through hypercoagulability due to hormonal change. These alterations occur in blood flow, vascular wall and clotting factors and while superimposed on a genetically predisposing field, create the optimal conditions for the occurrence of embolic phenomena. Here we present the case of a young, secondipara woman with recurrent thrombotic events, even under optimal anticoagulation therapy, where the extensive laboratory investigations identified the predisposing terrain: the heterozygous mutation of the MTHFR A1289C gene.
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