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J Korean Neurol Assoc. 2005;23(3):382-385.
- An Adolescent Ischemic Stroke Patient with Hyperhomocysteinemia, MTHFR 677TT and CBS 1080TT genotypes
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Dong Hern Lee
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Department of Neurology, Yonsei University Wonju College of Medicine, Wonju;
Department of Neurology, Ewha Womans University College of Medicinea, Seoul, Korea
- 호모시스테인혈증과 MTHFR 677TT 및 CBS 1080TT 동형접합성 유전자 변이를 동반한 청소년 허혈성 뇌졸중 1예
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이동헌, 박찬익 이일형 이재민 김서현 이지용 이성수 최병옥a
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연세대학교 원주의과대학 신경과학교실, 이화여자대학교 의과대학 신경과학교실a
- 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 ß-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 μmol/L. According to a genetic evaluation, the patient had the MTHFR 677TT and CBS 1080TT genotypes. KeyWords:Hyperhomocysteinemia, Cerebellar infarction
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