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Article

[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2014

Tamura Asako, Sasaki Ryogen, Kagawa Ken, Nakatani Kaname, Osaka Hitoshi, Tomimoto Hidekazu

Abstract excerpt

A 35-year-old woman was admitted with subacute intellectual deterioration. Laboratory studies showed elevated total homocysteine and decreased folic acid. MRI revealed leukoencephalopathy with a posterior predominance, and hyperintensity in the pyramidal tracts on T2-weighted and FLAIR images. The enzyme assay showed a deficiency of methylenetetrahydrofolate reductase (MTHFR) activity with low residual activity...

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Source

Identifiers

PMID: 24705833
DOI: 10.5692/clinicalneurol.54.200

Genes

MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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