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N Engl J Med. 2005 May 12;352(19):1985-91.

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

Author information

1
Division of Pediatric Neurology, Department of Pediatrics, University Hospital Aachen, Aachen, Germany. vramaekers@ukaachen.de

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.

PMID:
15888699
DOI:
10.1056/NEJMoa043160
[Indexed for MEDLINE]
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