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Cerebral folate deficiency is a genetically heterogeneous condition.1 Mutations in FOLR1 are responsible for a rare but treatable form of cerebral folate deficiency (OMIM #613068).1 The gene codes for folate receptor alpha (FRα), a specific CNS folate transporter. Individuals with FOLR1-related folate deficiency present with ataxia, dyskinesia, spasticity, seizures, and regression in cognitive abilities and motor skills during early childhood.2 Seizures commonly observed include generalized tonic-clonic, atonic, and myoclonic.3 To date, there have been 18 individuals with FOLR1-related cerebral folate deficiency diagnosed in childhood and reported in the literature.3–5 Early diagnosis is crucial, as high-dose folinic acid (2–5 mg/kg/day) has been reported to be an effective treatment that can ameliorate or even prevent further neurodegeneration, although no long-term treatment studies have been performed.1,3,5,6 We present the late diagnosis of adult siblings with cerebral folate deficiency due to FOLR1 mutations and their subsequent treatment.

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings