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KMID : 0359720230410010068
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Journal of the Korean Neurological Association
2023 Volume.41 No. 1 p.68 ~ p.72
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Neurological Manifestations of MTHFR-related Hyperhomocysteinemia
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Kang Min-Sung
Ahn June-Woo
Kim So-Hyeon
Seok Hung-Youl
Park Jin-Sung
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Abstract
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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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KEYWORD
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Methylenetetrahydrofolate reductase, Homocysteine, Polyneuropathies, Psychotic disorders, Polymorphism
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