title: Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.
abstract: In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MTHF) levels in the cerebrospinal fluid are low, but folate levels in the serum and erythrocytes are normal. We examined serum specimens from 28 children with cerebral folate deficiency, 5 of their mothers, 28 age-matched control subjects, and 41 patients with an unrelated neurologic disorder. Serum from 25 of the 28 patients and 0 of 28 control subjects contained high-affinity blocking autoantibodies against membrane-bound folate receptors that are present on the choroid plexus. Oral folinic acid normalized 5MTHF levels in the cerebrospinal fluid and led to clinical improvement. Cerebral folate deficiency is a disorder in which autoantibodies can prevent the transfer of folate from the plasma to the cerebrospinal fluid.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, University Hospital Aachen, Aachen, Germany. vramaekers@ukaachen.de
authors.forename: Vincent T
authors.initials: VT
authors.lastname: Ramaekers
authors.forename: Sheldon P
authors.initials: SP
authors.lastname: Rothenberg
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Sequeira
authors.forename: Thomas
authors.initials: T
authors.lastname: Opladen
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Edward V
authors.initials: EV
authors.lastname: Quadros
authors.forename: Jacob
authors.initials: J
authors.lastname: Selhub
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood*; D001327:Autoimmune Diseases / Q000175:diagnosis*; D001692:Biological Transport; D001812:Blood-Brain Barrier; D002352:Carrier Proteins / Q000276:immunology*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002831:Choroid Plexus; D005260:Female; D058973:Folate Receptors, GPI-Anchored; D005492:Folic Acid / Q000097:blood / Q000378:metabolism*; D005494:Folic Acid Deficiency / Q000097:blood / Q000134:cerebrospinal fluid / Q000276:immunology*; D006801:Humans; D008297:Male; D011956:Receptors, Cell Surface / Q000276:immunology*; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid*
chemical_list: D001323:Autoantibodies; D002352:Carrier Proteins; D058973:Folate Receptors, GPI-Anchored; D011956:Receptors, Cell Surface; D013763:Tetrahydrofolates; D005492:Folic Acid; C005984:5-methyltetrahydrofolate