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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

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.[1]


  1. Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. Ramaekers, V.T., Rothenberg, S.P., Sequeira, J.M., Opladen, T., Blau, N., Quadros, E.V., Selhub, J. N. Engl. J. Med. (2005) [Pubmed]
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