Article
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.
Brain : a journal of neurology - 1 Jul 2012
Grapp M, Just I A, Linnankivi T, Wolf P, Lücke T, Häusler M, Gärtner J, Steinfeld R
Abstract excerpt
Cerebral folate transport deficiency is an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 gene coding for folate receptor alpha (FRα). This genetic defect gives rise to a progressive neurological disorder with late infantile onset. We screened 72 children with low 5-methyltetrahydrofolate concentrations in the cerebrospinal fluid and neurological symptoms...
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