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Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2016

Delmelle Françoise, Thöny Beat, Clapuyt Philippe, Blau Nenad, Nassogne Marie-Cécile

Abstract excerpt

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:...

Topics

Child
Child, Preschool
Female
Folate Receptor 1
Humans
Infusions, Intravenous
Leucovorin
Mutation
Neuroaxonal Dystrophies
Siblings

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tetrahydrofolates

Source

Identifiers

PMID: 27328863
DOI: 10.1016/j.ejpn.2016.05.021

Genes

FOLR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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