N Engl J Med. 2005 May 12;352(19):1985-91.

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

Ramaekers VT, Rothenberg SP, Sequeira JM, Opladen T, Blau N, Quadros EV, Selhub J.

Source

Division of Pediatric Neurology, Department of Pediatrics, University Hospital Aachen, Aachen, Germany. vramaekers@ukaachen.de

Abstract

In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MTHF) levels in the cerebrospinal fluid are low, but folate levels in the serum and erythrocytes are normal. We examined serum specimens from 28 children with cerebral folate deficiency, 5 of their mothers, 28 age-matched control subjects, and 41 patients with an unrelated neurologic disorder. Serum from 25 of the 28 patients and 0 of 28 control subjects contained high-affinity blocking autoantibodies against membrane-bound folate receptors that are present on the choroid plexus. Oral folinic acid normalized 5MTHF levels in the cerebrospinal fluid and led to clinical improvement. Cerebral folate deficiency is a disorder in which autoantibodies can prevent the transfer of folate from the plasma to the cerebrospinal fluid.

Comment in

PMID:: 15888699; [PubMed - indexed for MEDLINE]

Free full text

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Molecular Biology Databases

FOLIC ACID - HSDB

Supplemental Content

Save items

Related citations in PubMed

Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. [Neuropediatrics. 2007]
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits.
Ramaekers VT, Blau N, Sequeira JM, Nassogne MC, Quadros EV. Neuropediatrics. 2007 Dec; 38(6):276-81.
Juvenile onset central nervous system folate deficiency and rheumatoid arthritis. [J Child Neurol. 2008]
Juvenile onset central nervous system folate deficiency and rheumatoid arthritis.
Koenig MK, Perez M, Rothenberg S, Butler IJ. J Child Neurol. 2008 Jan; 23(1):106-7. Epub 2007 Dec 3.
Cerebral folate deficiency syndrome. [N Engl J Med. 2005]
Cerebral folate deficiency syndrome.
Willemsen MA, Wevers RA, Verbeek MM. N Engl J Med. 2005 Aug 18; 353(7):740; author reply 740.
Review Cerebral folate deficiency. [Dev Med Child Neurol. 2009]
Review Cerebral folate deficiency.
Gordon N. Dev Med Child Neurol. 2009 Mar; 51(3):180-2.
Review Cerebral folate deficiency. [J Inherit Metab Dis. 2010]
Review Cerebral folate deficiency.
Hyland K, Shoffner J, Heales SJ. J Inherit Metab Dis. 2010 Oct; 33(5):563-70. Epub 2010 Jul 29.

See reviews... See all...

Cited by 10 PubMed Central articles

Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. [Am J Hum Genet. 2011]
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
Cario H, Smith DE, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, et al. Am J Hum Genet. 2011 Feb 11; 88(2):226-31.
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. [Am J Hum Genet. 2011]
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, et al. Am J Hum Genet. 2011 Feb 11; 88(2):216-25.
Neuronal injury: folate to the rescue? [J Clin Invest. 2010]
Neuronal injury: folate to the rescue?
Kronenberg G, Endres M. J Clin Invest. 2010 May; 120(5):1383-6. Epub 2010 Apr 26.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound
PubChem chemical compound records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records. Multiple substance records may contribute to the PubChem compound record.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Substance
PubChem chemical substance records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.
N Engl J Med. 2005 May 12 ;352(19):1985-91.

PubMed
Radical prostatectomy versus watchful waiting in early prostate cancer.
Radical prostatectomy versus watchful waiting in early prostate cancer.
N Engl J Med. 2005 May 12 ;352(19):1977-84.

PubMed
Effects of organochlorine insecticides on MAP kinase pathways in human HaCaT ker...
Effects of organochlorine insecticides on MAP kinase pathways in human HaCaT keratinocytes: key role of reactive oxygen species.
Toxicol Sci. 2005 Aug ;86(2):444-52. Epub 2005 May 11 .

PubMed
A cost-effectiveness analysis of hormone replacement therapy in the menopause.
A cost-effectiveness analysis of hormone replacement therapy in the menopause.
Med J Aust. 1992 Mar 2 ;156(5):312-6.

PubMed
Imaging of small bowel disease: comparison of capsule endoscopy, standard endosc...
Imaging of small bowel disease: comparison of capsule endoscopy, standard endoscopy, barium examination, and CT.
Radiographics. 2005 May-Jun ;25(3):697-711; discussion 711-8.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

Source

Abstract

Comment in

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Molecular Biology Databases

Supplemental Content

Save items

Related citations in PubMed

Cited by 10 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information