Translated from English (see below). Summary Brief
Autoimmunity folate receptor and folate deficiency brain in autism with low-level neurological deficits
reduced folate transport to the central nervous system was identified for two autistic disorder: the Rett syndrome and infantile autism with low-level neurological deficits.
Twenty five patients with low-level autism at birth, with and without neurological deficit, had their rates folate in serum, cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), and serum FR autoantibodies blocking type evaluated to determine the importance of folate receptor autoantibodies (FR) relative to transport folate across the blood-brain barrier. Despite normal levels of folate in serum, CSF-5MTHF was down to 23 of these 25 patients. The reduced rate of folate in CSF in 19 of the 23 patients could be explained by the serum EN autianticorps blocking the folate binding site of BF attached to membranes on the choroid epithelial cells. Oral supplementation with folic acid has led normalization of CSF 5MTHF and partial or total recovery after 12 months. The autoimmunity in serum FR appears to represent an important factor in the pathogenesis of reduced folate transport to the nervous system of children with autism early low or not associated with neurological deficits. The detection of autoantibodies FR can be a key factor in the prevention and therapy of this subgroup of patients.
My comment: The medical terminology is not very clear to me (I hope the translation is almost correct) but in any case one thing is clear: a sub group of autism or autism some low-level non-regressive and some Rett syndrome, is due to autoantibodies GB and can be treated by simple supplementation with folic acid (I guess if the child is complemented in time before damage to its development are irreversible). Maybe in some years this test could be made standard at birth, like PKU, preventing some cases of autism.
Neuropediatrics. 2007 Dec; 38 (6) :276-81.
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits.
Ramaekers VT , Blau N , Sequeira JM , Nassogne MC , Quadros EV .
1Division of Child Neurology, University Hospital Liège, Belgium.
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 autoantibodies FR May Be A Key Factor In The Prevention and Therapeutic Intervention Among this subgroup of patients With autism.
PMID: 18461502 [PubMed - in process]
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