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Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
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Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
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Journal Article
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
2005
Overview
Childhood cerebral folate deficiency is a disabling neurologic disorder in which folate is reduced in the cerebrospinal fluid but not in the blood. The usual signs of folate deficiency are therefore absent. This study showed that children with cerebral folate deficiency produce autoantibodies that block the binding of folate to the folate receptor. Very high doses of folate resulted in clinical improvement in some children.
Children with cerebral folate deficiency produce autoantibodies that block the binding of folate to the folate receptor. This report widens the scope of knowledge about receptor-binding autoantibodies and introduces provocative ideas about certain brain disorders of childhood.
Cerebral folate deficiency can be defined as any neuropsychiatric condition associated with low levels of 5-methyltetrahydrofolate (5MTHF), the active folate metabolite in the cerebrospinal fluid, in association with normal folate metabolism outside the central nervous system, as reflected by normal hematologic values, normal serum homocysteine levels, and normal levels of folate in serum and erythrocytes. Infantile-onset cerebral folate deficiency is a neurologic syndrome that develops four to six months after birth. Its major manifestations are marked irritability, slow head growth, psychomotor retardation, cerebellar ataxia, pyramidal tract signs in the legs, dyskinesias (e.g., choreoathetosis and ballismus), and in some cases, seizures. . . .
Publisher
Massachusetts Medical Society
Subject
/ Adult
/ Autoimmune Diseases - diagnosis
/ Biological and medical sciences
/ Carrier Proteins - immunology
/ Child
/ Female
/ Folate Receptors, GPI-Anchored
/ Folic Acid Deficiency - blood
/ Folic Acid Deficiency - cerebrospinal fluid
/ Folic Acid Deficiency - immunology
/ Humans
/ Male
/ Receptors, Cell Surface - immunology
/ Sciences de la santé humaine
