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Related Concept Videos

Brain Imaging01:14

Brain Imaging

Brain imaging technologies provide critical insights into both the structure and function of the human brain, enabling medical professionals and researchers to diagnose, study, and treat neurological disorders or psychiatric disorders more effectively.
These technologies include computerized axial tomography (CAT or CT scans), positron-emission tomography (PET scans),  magnetic resonance imaging (MRI),  functional magnetic resonance imaging (fMRI), and Transcranial Magnetic Stimulation (TMS).

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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
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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
PubMed
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.

Keywords:
CalcificationFolateMyelinNeuroimagingVitamin B12White matter

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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.