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: Vincent T Ramaekers, Sheldon P Rothenberg, Jeffrey M Sequeira, Thomas Opladen, Nenad Blau, Edward V Quadros, Jacob Selhub
• Journal: The New England journal of medicine (N Engl J Med) Vol. 352 Issue 19 Pg. 1985-91 (May 12 2005) ISSN: 1533-4406 [Electronic] United States
• PMID: 15888699 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2005 Massachusetts Medical Society.

Chemical References

• Autoantibodies
• Carrier Proteins
• Folate Receptors, GPI-Anchored
• Receptors, Cell Surface
• Tetrahydrofolates
• Folic Acid
• 5-methyltetrahydrofolate

Topics

• Adolescent
• Adult
• Autoantibodies (blood)
• Autoimmune Diseases (diagnosis)
• Biological Transport
• Blood-Brain Barrier
• Carrier Proteins (immunology)
• Case-Control Studies
• Child
• Child, Preschool
• Choroid Plexus
• Female
• Folate Receptors, GPI-Anchored
• Folic Acid (blood, metabolism)
• Folic Acid Deficiency (blood, cerebrospinal fluid, immunology)
• Humans
• Male
• Receptors, Cell Surface (immunology)
• Tetrahydrofolates (cerebrospinal fluid)