Cerebral folate deficiency

Developmental Medicine and Child Neurology

Volumn 46, Issue 12, 2004, Pages 843-851

  Ramaekers, Vincent Th ^a   Blau, Nenad ^b  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; ANTICONVULSIVE AGENT; FOLATE BINDING PROTEIN; FOLIC ACID; FOLINIC ACID;

AGITATION; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID ANALYSIS; CLINICAL ARTICLE; DISEASE EXACERBATION; DYSKINESIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; FOLATE METABOLISM; FOLIC ACID DEFICIENCY; FOLLOW UP; GASTROINTESTINAL SYMPTOM; GRAND MAL SEIZURE; HUMAN; IRRITABILITY; MENTAL DISEASE; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROTOXICITY; NOTE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN GLYCOSYLATION; PROTEIN PROCESSING; SEIZURE; SLEEP DISORDER; SPASTIC PARAPLEGIA; TIC; TREATMENT OUTCOME; VISUAL DISORDER;

BRAIN; CARRIER PROTEINS; CEREBROSPINAL FLUID PROTEINS; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; DIAGNOSIS, DIFFERENTIAL; DNA-BINDING PROTEINS; FEMALE; FOLIC ACID DEFICIENCY; GLYCOSYLATION; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS; METHYL-CPG-BINDING PROTEIN 2; PROTEIN PROCESSING, POST-TRANSLATIONAL; RECEPTORS, CELL SURFACE; REPRESSOR PROTEINS; TERMINOLOGY;

EID: 9244221705     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0012162204001471     Document Type: Note

References (37)

1. Surtees R. (2001) Cobalamin and folate responsive disorders. In: Baxter P, editor. Vitamin Responsive Conditions in Paediatric Neurology. International Review of Child Neurology Series. London: Mac Keith Press. p 96-108.
2. Surtees R. (1993) Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain. J Inherit Metab Dis 16: 762-770.
3. Rosenblatt D. (1995) Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Basis of Inherited Disease. 6th edn. New York: McGraw-Hill. p 3111-3128.
4. Suh JR, Herbig AK, Stover PJ. (2001) New perspectives on folate catabolism. Ann Rev Nutr 21: 255-282.
5. Kamen BA, Smith AK. (2004) A review of folate receptor alpha cycling and 5-methyltetrahydrofolate accumulation with an emphasis on cell models in vitro. Adv Drug Deliv Rev 56: 1085-1097.
6. Sabharanjak S, Mayor S. (2004) Folate receptor endocytosis and trafficking. Adv Drug Deliv Rev 56: 1099-1109.
7. Wevers RA, Hansen SI, van Hellenburg-Huber JL, Holm J, Hoier-Madsen M, Jongen PJ. (1994) Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system. J Neurol Neurosurg Psychiatr 57: 223-226.
8. Ramaekers V, Häusler M, Opladen T, Heimann G, Blau N. (2002) Psychomotor retardation, spastic paraplegia, cerebellar ataxia, and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. Neuropediatrics 33: 301-308.
9. Ghosh SK, Syed SK, Jung S, Paik WK, Kim S. (1990) Substrate specificity for myelin basic protein-specific protein methylase I. Biochim Biophys Acta 1039: 142-148.
10. Johnson WG, Stenroos ES, Spychala JR, Chatkupt S, Ming SX, Buyske S. (2004) New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy? Am J Med Genet 124A: 339-345.
11. Rothenberg SP, Da Costa MP, Sequeira JM, Cracco J, Roberts JL, Weedon J, Quadros EV. (2004) Autoantibodies against folate receptors in women with a pregnancy complicated by a neural tube defect. New Engl J Med 59: 410-411.
12. Holm J, Hansen SI, Hoier-Madsen M, Bostad L. (1991) High-affinity folate binding in human choroid plexus. Biochem J 280: 267-271.
13. Selhub J. (1994) Folate binding proteins. Mechanisms for placental and intestinal uptake. In: Allen L, King J, Lönnertal B, editors. Nutrient Relation During Pregnancy, Lactation and Infant Growth. New York: Plenum Press. p 141-149.
14. Wang Y, Zhao R, Russell RG, Goldman ID. (2001) Localization of the murine reduced folate carrier as assessed by immunohistochemical analysis. Biochim Biophys Acta 1513: 49-54.
15. Spector R. (1989) Micronutrient homeostasis in mammalian brain and cerebrospinal fluid. J Neurochem 53: 1667-1674.
16. Weitman SD, Weinberg AG, Coney LR, Zurwski VR, Jennings DS, Kamen BA. (1992) Cellular localization of the folate receptor: potential role in drug toxicity and folate homeostasis. Cancer Res 52: 6708-6711.
17. Antony AC, Tang YS, Khan RA, Biju MP, Xiao X, Li QJ, Sun XL, Jayaram HN, Stabler SP. (2004) Translational upregulation of folate receptors is mediated by homocysteine via RNA-heterogeneous nuclear ribonucleoprotein E1 interactions. J Clin Invest 113: 285-301.
18. Shen F, Wang H, Zheng X, Ratnam M. (1997) Expression levels of functional folate receptor alpha and beta are related to the number of N-glycosylated sites. Biochem J 327: 759-764.
19. Chatterjee S, Smith ER, Hanada K, Stevens VL, Mayor S. (2001) GPI anchoring leads to sphingolipid dependent retention of endocytosed proteins in the recycling endosomal compartment. EMBO J 20: 1583-1592.
20. Doucette MM, Stevens VL. (2004) Point mutations alter the cellular distribution of the human folate receptor in cultured Chinese hamster ovary cells. J Nutr 134: 308-316.
21. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler E. (1989) Autism Diagnostic Observation Schedule: standardized observations of communicative and social behaviour. J Autism Dev Disord 19: 185-212.
22. Blau N, Blasovics ME. (1996) Hyperphenylalaninemia. In: Blau N, Duran M, Blasovicks ME, editors. Physicians Guide to the Laboratory Diagnosis of Metabolic Diseases. Chapman Hall Medical. Chapter 1 and p 71.
23. Gospe SM, Gietzen DW, Summers PJ, Lunetta JM, Miller JW, Selhub J, Ellis WG, Clifford AJ. (1995) Behavioral and neurochemical changes in folate-deficient mice. Physiol Behav 58: 935-941.
24. Young SN. (1991) The 1989 Borden Award Lecture. Some effects of dietary components (amino acids, carbohydrate, folic acid) on brain serotonin synthesis, mood and behavior. Can J Physiol Pharmacol 69: 893-903.
25. Ventura A, Bouquet F, Sartorelli C, Barbi E, Torre G, Tommasini G. (1991) Coeliac disease, folic acid deficiency and epilepsy with cerebral calcifications. Acta Paediatr Scand 80: 559-562.
26. Corbeel L, Van den Berghe G, Jaeken J, Van Tornout J, Eeckels R. (1985) Congenital folate malabsorption. Eur J Pediatr 148: 284-290.
27. De Koning TJ, Duran M, Dorland L. (2000) Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency. Eur J Pediatr 159: 939-940.
28. Clayton PT, Smith I, Harding B, Hyland K, Leonard JV, Leeming RJ. (1986) Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. J Neurol Neurosurg Psychiatry 49: 920-927.
29. Beckman DR, Hoganson C, Berlow S, Gilbert EF. (1987) Pathological findings in 5,10-methylenetetrahydro-folate deficiency. Birth Defects 23: 47-64.
30. Woody RC, Brewster MA, Glasier C. (1989) Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. Neurology 39: 673-675.
31. Irons M, Levy HL, O'Flynn ME, Stack CV, Langlais PJ, Butler IJ, Milstien S, Kaufman S. (1987) Folinic acid therapy in treatment of dihydropteridine reductase deficiency. J Pediatr 110: 61-67.
32. Brautigam C, Wevers RA, Hyland K, Sharma RK, Knust A, Hoffman GF. (2000) The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients. J Inherit Metab Dis 23: 321-324.
33. Ramaekers V, Hansen SI, Holm J, Opladen T, Senderek J, Hausler M, Heimann G, Fowler B, Maiwald R, Blau N. (2003) Reduced folate transport to the CNS in female Rett patients. Neurology 61: 506-514.
34. Blau N, Bonafe L, Krägeloh-Mann I, Thony B, Kierat L, Hausler M, Ramaekers VT. (2003) Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: a new phenotype. Neurology 61: 642-647.
35. Stites TE, Bailey LB, Scott KC, Toth JP, Fisher WP, Gregory JF. (1997) Kinetic modeling of folate metabolism through the use of chronic administration of deuterium-labeled folic acid in men. Am J Clin Nutr 65: 53-60.
36. Hunter R, Barnes J, Oakeley HF, Matthews DM. (1970) Toxicity of folic acid given in pharmacological doses to healthy volunteers. Lancet 1: 61-63.
37. Hommes OR, Obbens EA. (1972) The epileptogenic action of Na-folate in the rat. J Neurol Sci 16: 271-81.