1.
Journal of the Korean Neurological Association
; : 382-385, 2005.
文章
在 韩国
| WPRIM
| ID: wpr-201279
摘要
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.