Reference : Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism...
Scientific journals : Article
Human health sciences : Neurology
Human health sciences : Pediatrics
http://hdl.handle.net/2268/168811
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits
English
RAMAEKERS, Vincent mailto [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]
Dec-2007
Neuropediatrics
38
6
276-281
Yes
International
0174-304X
1439-1899
[en] 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
[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.
http://hdl.handle.net/2268/168811
10.1055/s-2008-1065354

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