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Related Experiment Videos

Cerebral folate deficiency.

Vincent Th Ramaekers1, Nenad Blau

  • 1University Hospital Aachen, Germany. vramaekers@skynet.be

Developmental Medicine and Child Neurology
|December 8, 2004
PubMed
Summary
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This study identifies a novel neurometabolic syndrome, idiopathic cerebral folate deficiency (CFD), in children. Early treatment with folinic acid shows promising results for improving neurological outcomes in affected children.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Cerebral folate deficiency (CFD) is a neurological syndrome characterized by low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF).
  • CFD can stem from impaired folate transport or increased folate turnover in the central nervous system (CNS).
  • A novel neurometabolic syndrome, termed 'idiopathic CFD', is described in 20 children.

Purpose of the Study:

  • To characterize a novel neurometabolic syndrome, idiopathic CFD, in pediatric patients.
  • To investigate the underlying mechanisms of idiopathic CFD.
  • To evaluate the efficacy of folinic acid treatment for idiopathic CFD.

Main Methods:

  • Clinical assessment of 20 children with idiopathic CFD, including neurological examination and neuroimaging.

Related Experiment Videos

  • Genetic sequencing of the folate receptor 1 (FR1) gene.
  • CSF protein analysis to assess FR1 protein function.
  • Evaluation of treatment response to folinic acid (5-formyltetrahydrofolate).

    • Main Results:

    • Idiopathic CFD presented with neurological symptoms from 4 months of age, including psychomotor retardation, ataxia, and spasticity.
    • Neuroimaging revealed frontotemporal atrophy and periventricular demyelination in some patients.
    • FR1 gene sequencing was normal, but CSF analysis indicated a non-functional FR1 protein.
    • Early treatment (before age 6) with folinic acid led to favorable clinical responses, while later treatment showed poorer outcomes.

    Conclusions:

    • Idiopathic CFD is a distinct neurometabolic syndrome affecting children.
    • The condition involves a non-functional FR1 protein, despite normal FR1 gene sequence.
    • Early initiation of folinic acid treatment is crucial for optimal neurological recovery in children with idiopathic CFD.