J Korean Neurol Assoc.
2005 Jun;23(3):382-385.
An Adolescent Ischemic Stroke Patient with Hyperhomocysteinemia, MTHFR 677TT and CBS 1080TT genotypes
- Affiliations
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- 1Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, Korea.
- 2Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea. bstuff@wonju.yonsei.ac.kr
Abstract
- Hyperhomocysteinemia is an independent risk factor for cerebrovascular disease. Hyperhomocysteinemia can be caused by the defect of the remethylation pathway including the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene or the transsulfuration pathway including the cystathionine beta-synthase (CBS) gene of homocysteine metabolism. The major cause of severe hyperhomocysteinemia is CBS gene mutation. A 16-year-old male was admitted with vertigo. Brain MRI showed right cerebellar infarction. The plasma homocysteine level was 175 mocro mol/L. According to a genetic evaluation, the patient had the MTHFR 677TT and CBS 1080TT genotypes.
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