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Updated: May 15, 2026
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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Neuroimaging in cerebral folate deficiencies
Asthik Biswas1, Karanjot Chhatwal2,3, Rahul Singh4
1Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK. asthik.biswas@gosh.nhs.uk.
Pediatric Radiology
|May 13, 2026
Summary
Cerebral folate deficiency involves low 5-methyltetrahydrofolate (5-MTHF) in cerebrospinal fluid, causing neurological issues. Early diagnosis and treatment, aided by neuroimaging, can reverse symptoms.
Area of Science:
- Neurology
- Biochemistry
- Genetics
Background:
- Cerebral folate deficiency (CFD) is characterized by low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF).
- It stems from primary defects in folate transport/metabolism or secondary causes.
- Symptoms manifest from infancy to adulthood, including developmental delay, seizures, and cognitive/neuropsychiatric issues.
Purpose of the Study:
- To review folate biochemistry and CNS transport mechanisms.
- To discuss genetic defects causing CFD.
- To outline neuroimaging findings in primary and secondary CFD and differential diagnoses.
Main Methods:
- Literature review of folate metabolism, transport, and genetics.
- Analysis of neuroimaging features in CFD.
- Comparison with cobalamin-related disorders.
Main Results:
- Folate is crucial for one-carbon metabolism, nucleotide synthesis, methylation, and myelin production.
- Disrupted folate pathways lead to white matter abnormalities, calcifications, atrophy, and stroke-like lesions on imaging.
- Cobalamin (vitamin B12) deficiency is a key differential diagnosis.
Conclusions:
- CFD presents with diverse neurological and imaging findings.
- Neuroimaging plays a vital role in diagnosing and monitoring CFD.
- Timely recognition and therapy can lead to reversible outcomes in many CFD cases.
