J Korean Neurol Assoc.
2023 Feb;41(1):68-72. 10.17340/jkna.2023.1.13.
Neurological Manifestations of MTHFR-related Hyperhomocysteinemia
- Affiliations
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- 1Department of Neurology, Kyungpook National University Chilgok Hospital, Daegu, Korea
- 2Department of Neurology, Keimyung University School of Medicine, Daegu, Korea
- 3Department of Neurology, Kyungpook National University School of Medicine, Daegu, Korea
- KMID: 2539093
- DOI: http://doi.org/10.17340/jkna.2023.1.13
Abstract
- Methylene-tetrahydrofolate reductase (MTHFR) is a homocysteine metabolism-related enzyme and defects of MTHFR is a risk factor for hyperhomocysteinemia and related various neurological disease. Among them, 665C>T polymorphism is the most common form. We report a 48 years old man presenting with progressive psychiatric problems along with severe demyelinating polyneuropathy due to homozygous c.665C>T homozygote polymorphism superimposed by compound heterozygous mutation (c.1417C>T, p.Arg473Trp) in the MTHFR gene, without thromboembolic changes.
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