Article (Scientific journals)
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome
Ramaekers, Vincent; Rothenberg, S. P.; Sequeira, J. M. et al.
2005In New England Journal of Medicine, 352 (19), p. 1985-1991
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Keywords :
Adolescent; Adult; Autoantibodies; Autoimmune Diseases; Biological Transport; Blood-Brain Barrier; Carrier Proteins; Case-Control Studies; Child; Child, Preschool; Choroid Plexus; Female; Folic Acid; Folic Acid Deficiency; Humans; Male; Receptors, Cell Surface; Tetrahydrofolates
Abstract :
[en] 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. Copyright © 2005 Massachusetts Medical Society.
Disciplines :
Pediatrics
Neurology
Author, co-author :
Ramaekers, Vincent ;  Rheinisch - Westfälische Technische Hochschule Aachen - RWTH > Pediatrics > Pediatric Neurology
Rothenberg, S. P.;  State University of New York, Downstate Medical Center, Brooklyn, NY, United States > Department of Medicine
Sequeira, J. M.;  State University of New York, Downstate Medical Center, Brooklyn, NY, United States > Department of Medicine
Opladen, T.;  Division of Pediatric Neurology, Department of Pediatrics, University Hospital Aachen, Aachen, Germany, Div. of Clin. Chem. and Biochemistry, University Children's Hospital, Zurich, Switzerland
Blau, N.;  Div. of Clin. Chem. and Biochemistry, University Children's Hospital, Zurich, Switzerland
Quadros, E. V.;  Department of Medicine, State University of New York, Downstate Medical Center, Brooklyn, NY, United States
Selhub, J.;  Vit. Metabolism and Aging Laboratory, Jean Mayer USDA Hum. Nutr. Res. C., Tufts University, Boston, United States
Language :
English
Title :
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome
Publication date :
12 May 2005
Journal title :
New England Journal of Medicine
ISSN :
0028-4793
eISSN :
1533-4406
Publisher :
Massachusetts Medical Society, United States - Massachusetts
Volume :
352
Issue :
19
Pages :
1985-1991
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 07 June 2014

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