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Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1

Sandra P Toelle1, David Wille1, Bernhard Schmitt1

  • 1Division of Neurology.

Epileptic Disorders : International Epilepsy Journal with Videotape
|February 22, 2014
PubMed

Insights

Loss-of-function mutations in the FOLR1 gene cause cerebral folate transport deficiency, a progressive neurometabolic disorder. This case highlights delayed myelination, cerebellar atrophy, and novel basal ganglia calcifications in a child with this condition.

Area of Science:

  • Genetics
  • Neurology
  • Metabolic disorders

Background:

  • Loss-of-function mutations in the FOLR1 gene impair folate receptor alpha function.
  • This leads to deficient cerebral folate transport, causing progressive neurometabolic disorders.

Observation:

  • A 5-year-old boy presented with progressive ataxia, myoclonic jerks, developmental regression, and myoclonic tonic spasms.
  • Symptoms were exacerbated by facial touching and hand washing.
  • Cranial MRI revealed delayed myelination and cerebellar atrophy, suggesting cerebral folate transport deficiency.

Findings:

  • The patient was homozygous for the p.R204X nonsense mutation in the FOLR1 gene, confirming the diagnosis.
  • A novel finding of bilateral basal ganglia calcifications was observed on CT scan after head injury.

Implications:

  • This case expands the understanding of FOLR1-associated disorders.
  • It highlights the diagnostic utility of neuroimaging findings like delayed myelination, cerebellar atrophy, and basal ganglia calcifications.
  • Early diagnosis and management are crucial for mitigating the progressive neurological decline associated with cerebral folate transport deficiency.

Keywords:
FOLR1MTHFdrop-attackshypomyelinationmyoclonus

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