Abstract
Isolated cerebral folate deficiency was detected in a 13-year-old girl with cognitive and motor difficulties and juvenile rheumatoid arthritis. Her serum contains autoantibodies that block membrane-bound folate receptors that are on the choroid plexus and diminish the uptake of folate into the spinal fluid. Whereas her serum folate exceeded 21 ng/mL, her spinal fluid contained 3.2 ng/mL of 5-methyltetrahydrofolate as a consequence of the autoantibodies diminishing the uptake of this folate.
MeSH terms
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Adolescent
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Affective Symptoms / immunology
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Affective Symptoms / metabolism
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Affective Symptoms / physiopathology
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Age of Onset
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Arthritis, Juvenile / complications*
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Arthritis, Juvenile / physiopathology*
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Autoantibodies / blood
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Autoantibodies / immunology
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Brain / metabolism
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Brain / pathology
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Brain / physiopathology
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Brain Diseases, Metabolic / complications
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Brain Diseases, Metabolic / immunology*
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Brain Diseases, Metabolic / physiopathology*
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Carrier Proteins / immunology
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Choroid Plexus / immunology
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Choroid Plexus / metabolism
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Choroid Plexus / physiopathology
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Cognition Disorders / immunology
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Cognition Disorders / metabolism
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Cognition Disorders / physiopathology
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Female
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Folate Receptors, GPI-Anchored
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Folic Acid / metabolism
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Folic Acid Deficiency / complications
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Folic Acid Deficiency / immunology*
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Folic Acid Deficiency / physiopathology*
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Humans
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Magnetic Resonance Imaging
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Motor Skills Disorders / immunology
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Motor Skills Disorders / metabolism
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Motor Skills Disorders / physiopathology
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Receptors, Cell Surface / immunology
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Spinal Cord / metabolism
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Spinal Cord / pathology
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Spinal Cord / physiopathology
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Tetrahydrofolates / cerebrospinal fluid
Substances
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Autoantibodies
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Carrier Proteins
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Folate Receptors, GPI-Anchored
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Receptors, Cell Surface
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Tetrahydrofolates
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Folic Acid
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5-methyltetrahydrofolate