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KMID : 0359720220400040307
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Journal of the Korean Neurological Association
2022 Volume.40 No. 4 p.307 ~ p.310
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Cerebral Venous Sinus Thrombosis with MTHFR C677T Heterozygous Mutation
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Chae Sol
Yun Dong-Min
Lim Sung-Min
Jang Sang-Hyun
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Abstract
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Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases the level of homocysteine. MTHFR C677T gene polymorphism has been reported as a wellknown cause of elevated homocysteine level associated with cerebral venous sinus thrombosis (CVST). A 34yearold male was admitted with severe headache after generalized seizure. Brain magnetic resonance venography showed thrombus in superior sagittal sinus. In the investigation of risk factors, a slight increase in homocysteine caused by MTHFR C677T heterozygous mutation is presumed to be the cause of CVST.
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KEYWORD
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MTHFR mutation, Hyperhomocysteinemia, Cerebral venous thrombosis
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