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07 June 2014
Article (Scientific journals)
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits
RAMAEKERS, Vincent  ; Blau, N.; Sequeira, J. M. et al.
2007 • In Neuropediatrics, 38 (6), p. 276-281
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Keywords :
Cerebral folate deficiency; Folate receptor autoimmunity; Kanner syndrome; Low-IQ autism; Neurodevelopmental delay; Adolescent; Autistic Disorder; Autoantibodies; Carrier Proteins; Child; Child, Preschool; Female; Folic Acid; Folic Acid Deficiency; Humans; Male; Nervous System Diseases; Receptors, Cell Surface; Tetrahydrofolates; Treatment Outcome
Abstract :
[en] Reduced folate transport to the CNS was identified in two autism spectrum disorders, i.e., Rett syndrome and infantile low-functioning autism with neurological abnormalities. Twenty-five patients with early-onset low-functioning autism with or without neurological deficits, were evaluated for serum folate, cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), and serum FR autoantibodies of the blocking type to determine the significance of folate receptor (FR) autoantibodies with respect to folate transport across the blood-CSF barrier. In spite of normal serum folate, CSF 5MTHF was low in 23 of 25 patients. The reduced CSF folate in 19 of these 23 patients could be explained by serum FR autoantibodies blocking the folate binding site of the membrane-attached FR on the choroid epithelial cells. Oral folinic acid supplements led to normal CSF 5MTHF and partial or complete clinical recovery after 12 months. Serum FR autoimmunity appears to represent an important factor in the pathogenesis of reduced folate transport to the nervous system among children with early-onset low-functioning autism associated with or without neurological deficits. Early detection of FR autoantibodies may be a key factor in the prevention and therapeutic intervention among this subgroup of patients with autism. © Georg Thieme Verlag KG Stuttgart.
Disciplines :
Pediatrics
Neurology
Author, co-author :
RAMAEKERS, Vincent ;  Division of Child Neurology, University Hospital Aachen, Aachen, Germany
Blau, N.;  Division of Chemistry and Biochemistry, University Children's Hospital Zürich, Switzerland
Sequeira, J. M.;  Department of Medicine/Cell Biology, SUNY-Downstate Medical Center, Brooklyn, NY, United States
Nassogne, M.-C.;  Department of Child Neurology, Université Catholique de Louvain, Belgium
Quadros, E. V.;  Department of Medicine/Cell Biology, SUNY-Downstate Medical Center, Brooklyn, NY, United States
Language :
English
Title :
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits
Publication date :
December 2007
Journal title :
Neuropediatrics
ISSN :
0174-304X
eISSN :
1439-1899
Publisher :
Georg Thieme Verlag, Germany
Volume :
38
Issue :
6
Pages :
276-281
Peer reviewed :
Peer Reviewed verified by ORBi

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