Journal
MOLECULAR GENETICS AND METABOLISM
Volume 84, Issue 4, Pages 371-373Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2004.12.001
Keywords
5-methyltetrahydrofolate; spastic paraplegia; folates; blood-brain barrier
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Cerebral folate deficiency is characterized by low cerebrospinal fluid (CSF) concentrations of 5-methyltetrahydrofolate and a broad spectrum of clinical signs and symptoms. A patient with progressive spasticity, gait disturbance, speech difficulties, initially diagnosed as a recessive spastic paraplegia recovered on folinic acid (15-30 mg/day) and her 5-methyltetrahydrofolate in CSF normalized. This report demonstrates the importance of CSF investigation in the diagnosis of cerebral folate deficiency and efficiency of folinic acid (5-formyltetrahydrofolate) supplementation. (c) 2004 Elsevier Inc. All rights reserved.
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