Cerebral folate deficiency.

Summary of "Cerebral folate deficiency."

Cerebral folate deficiency (CFD) is defined as any neurological syndrome associated with a low cerebrospinal fluid (CSF) concentration of 5-methyltetrahydrofolate (5MTHF) in the presence of normal peripheral folate status. CFD has a wide clinical presentation, with reported signs and symptoms generally beginning at around 4 months of age with irritability and sleep disturbances. These can be followed by psychomotor retardation, dyskinesia, cerebellar ataxia and spastic diplegia. Other signs may include deceleration of head growth, visual disturbances and sensorineural hearing loss. Identification of CFD is achieved by determining 5MTHF concentration in CSF. Once identified, CFD can in many cases be treated by administering oral folinic acid. Supplementation with folic acid is contraindicated and, if used, may exacerbate the CSF 5MTHF deficiency. Generation of autoantibodies against the folate receptor required to transport 5MTHF into CSF and mutations in the folate receptor 1 (FOLR1) gene have been reported to be causes of CFD. However, other mechanisms are probably also involved, as CFD has been reported in Aicardi-Goutiere's and Rett syndromes and in mitochondriopathies. Several metabolic conditions and a number of widely used drugs can also lead to a decrease in the concentration of CSF 5MTHF, and these should be considered in the differential diagnosis if a low concentration of 5MTHF is found following CSF analysis.


Medical Neurogenetics, 1 Dunwoody Park, Suite 250, Atlanta, GA, 30338, USA,

Journal Details

This article was published in the following journal.

Name: Journal of inherited metabolic disease
ISSN: 1573-2665


DeepDyve research library

PubMed Articles [3647 Associated PubMed Articles listed on BioPortfolio]

Folate biofortification in food crops.

Folates are essential vitamins in the human diet. Folate deficiency is still very common, provoking disorders such as birth defects and anemia. Biofortification via metabolic engineering is a proven p...

Characterization and Interrelations of One-Carbon Metabolites in Tissues, Erythrocytes, and Plasma in Mice with Dietary Induced Folate Deficiency.

Studies on one-carbon metabolism for the assessment of folate deficiency have focused on either metabolites of folate metabolism or methionine cycle. To bridge the gap between deficiency markers in th...

Large -scale wheat flour folic acid fortification program increases plasma folate levels among women of reproductive age in urban Tanzania.

There is widespread vitamin and mineral deficiency problem in Tanzania with known deficiencies of at least vitamin A, iron, folate and zinc, resulting in lasting negative consequences especially on ma...

Combined assessment of serum folate and hemoglobin as biomarkers of brain amyloid β accumulation.

A relationship between Alzheimer's disease (AD) and folate has been reported. Amyloid positron emission tomography (PET) is currently one of the most reliable biomarkers for AD. We investigated the co...

Folate nutrition and blood-brain barrier dysfunction.

Mammals require essential nutrients from dietary sources to support normal metabolic, physiological and neuronal functions, to prevent diseases of nutritional deficiency as well as to prevent chronic ...

Clinical Trials [2125 Associated Clinical Trials listed on BioPortfolio]

Correspondence of Folate Dietary Intake and Biomarker Data

This NHANES analysis compares self-reported dietary folate with serum and red blood cell folate status in U.S. adults.

Folate Gene Polymorphisms and Cellular Folate Speciation Pilot Study

This pilot study is designed to investigate differences in folate-related genes (single nucleotide polymorphisms) and their relationship to the species of folate present on red blood cells...

Increasing Folate Status of a General Population(FOLSUPP STUDY)

The aim of this study is to determine the best source of folate to raise the folate status of a general population over a 16 week intervention period.

Can Oral Vitamin B12 and Folate Supplementation Preserve Cognitive Function of Patients With Early Dementia?

Background: Vitamin B12 and folate are essential to brain health. Sub optimal status of vitamin B12 and folate leads to elevation of plasma homocysteine concentration, which is associated ...

Effect of Folate on Colon and Blood Cells

This study looks at the effect of folate supplementation and depletion on the blood cells and the colorectal cells. To examine the effect of these changes, blood samples and colorectal bi...

Medical and Biotech [MESH] Definitions

A subtype of GPI-anchored folate receptors that is expressed in PLACENTA and hematopoietic cells.

A subtype of GPI-anchored folate receptors that is expressed in tissues of epithelial origin. This protein is also identified as an ovarian-tumor-specific antigen.

Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.

A heterogeneous group of sporadic or familial disorders characterized by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. Clinical features include multiple, small lobar CEREBRAL HEMORRHAGE; cerebral ischemia (BRAIN ISCHEMIA); and CEREBRAL INFARCTION. Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE. (from Kumar: Robbins and Cotran: Pathologic Basis of Disease, 7th ed., 2005)

Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY.

Quick Search

DeepDyve research library

Relevant Topics

Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...

Sleep Disorders
Sleep disorders disrupt sleep during the night, or cause sleepiness during the day, caused by physiological or psychological factors. The common ones include snoring and sleep apnea, insomnia, parasomnias, sleep paralysis, restless legs syndrome, circa...

Hearing, auditory perception, or audition is the ability to perceive sound by detecting vibrations, changes in the pressure of the surrounding medium through time, through an organ such as the ear. Sound may be heard through solid, liquid, or gaseous mat...

Searches Linking to this Article