Article (Scientific journals)
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome
Ramaekers, Vincent; Sequeira, J. M.; Artuch, R. et al.
2007In Neuropediatrics, 38 (4), p. 179-183
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Keywords :
Folate metabolism; Folate receptor antibodies; Rett Syndrome; Adolescent; Adult; Autoantibodies; Carrier Proteins; Child; Child, Preschool; Europe; Female; Humans; Male; Receptors, Cell Surface; Tetrahydrofolates
Abstract :
[en] Rett syndrome was associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) in 42-50% of European patients whereas approximately 93% of the patients from North-America had a normal CSF 5MTHF status. We determined the CSF folate status in Rett patients living in North- and South-Western Europe and measured serum folate receptor (FR) autoantibodies of the blocking type to explain the reduced folate transport across the choroid plexus. Irrespective of their MECP2 genotype and despite normal plasma folate values, 14 of 33 Rett patients (42%) had low CSF folate levels. Blocking FR autoantibodies were found in 8 of the Rett patients (24%), 6 of whom had low CSF folate levels. FR autoimmunity was primarily found within the group of Rett patients with low CSF folate status with a higher incidence in North-Western Europe. In Rett patients from North-America 74 of 76 girls had higher folate values in both serum and CSF than European patients. The food folate fortification in North-America may account for the higher folate levels and may prevent CFD in these Rett patients. FR autoimmunity occurred predominantly in Rett patients from North-Western Europe and may contribute to cerebral folate deficiency (CFD). © Georg Thieme Verlag KG Stuttgart.
Disciplines :
Pediatrics
Neurology
Author, co-author :
Ramaekers, Vincent ;  Université de Liège - ULiège > Relations académiques et scientifiques (Médecine)
Sequeira, J. M.;  Department of Medicine/Cell Biology, SUNY, Downstate Medical Center, Brooklyn, NY, United States
Artuch, R.;  Division of Pediatric Neurology, Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain
Blau, N.;  Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zürich, Switzerland
Temudo, T.;  Serviço Pediatria Hospital Santo António, Porto, Portugal
Ormazabal, A.;  Division of Pediatric Neurology, Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain
Pineda, M.;  Division of Pediatric Neurology, Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain
Aracil, A.;  Division of Pediatric Neurology, Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain
Roelens, F.;  Division of Paediatric Neurology, Heilig Hart Hospital, Roeselare, Belgium
Laccone, F.;  Department of Human Genetics, Medical University Vienna, Vienna, Austria
Quadros, E. V.;  Department of Medicine/Cell Biology, SUNY, Downstate Medical Center, Brooklyn, NY, United States
Language :
English
Title :
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome
Publication date :
August 2007
Journal title :
Neuropediatrics
ISSN :
0174-304X
eISSN :
1439-1899
Publisher :
Georg Thieme Verlag, Germany
Volume :
38
Issue :
4
Pages :
179-183
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 07 June 2014

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