Publication: Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation
Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation
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Delmelle, F., Thöny, B., Clapuyt, P., Blau, N., & Nassogne, M.-C. (2016). Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation. European Journal of Paediatric Neurology, 20, 709–713. https://doi.org/10.1016/j.ejpn.2016.05.021
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BACKGROUND: Cerebral folate transporter deficiency caused by FOLR-1 mutations has been described in 2009. This condition is characterized by a 5MTHF level <5 nmol/l in the CSF, along with regression of acquisition in the second year of life, ataxia, and refractory myoclonic epilepsy. Oral or intravenous folinic acid (5-formyltetrahydrofolate) treatment has been shown to improve clinical status. CASE PRESENTATION: We present the cases of two sisters with cerebral folate transport deficiency caused by mutation in the folate receptor 1 (
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- Delmelle, Françoise
- Thöny, Beat
- Clapuyt, Philippe
- Blau, Nenad
- Nassogne, Marie-Cécile
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Delmelle, F., Thöny, B., Clapuyt, P., Blau, N., & Nassogne, M.-C. (2016). Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation. European Journal of Paediatric Neurology, 20, 709–713. https://doi.org/10.1016/j.ejpn.2016.05.021