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NEUROLOGY 2005;64:1088-1090
© 2005 American Academy of Neurology
Brief Communications

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

P. Moretti, MD, T. Sahoo, MD, K. Hyland, PhD, T. Bottiglieri, PhD, S. Peters, PhD, D. del Gaudio, PhD, B. Roa, PhD, S. Curry, BS, H. Zhu, MD, PhD, R. H. Finnell, PhD, J. L. Neul, MD, PhD, V. T. Ramaekers, MD, PhD, N. Blau, PhD, C. A. Bacino, MD, G. Miller, MD and F. Scaglia, MD

From the Departments of Molecular and Human Genetics (Drs. Moretti, Sahoo, del Gaudio, Roa, Bacino, and Scaglia), Neurology (Dr. Moretti), and Pediatrics (Drs. Peters, Neul, and Miller), Baylor College of Medicine, Houston, TX; Institute of Metabolic Disease (Drs. Hyland and Bottiglieri), Baylor University Medical Center, Dallas, TX; Center for Environmental and Genetic Medicine (Drs. Zhu and Finnell, S. Curry), Institute of Biosciences and Technology, Texas A & M University System Health Science Center, Houston, TX; Division of Pediatric Neurology (Dr. Ramaekers), Department of Pediatrics, University Hospital, Aachen, Germany; and Division of Clinical Chemistry and Biochemistry (Dr. Blau), University Children’s Hospital, Zürich, Switzerland.

Address correspondence and reprint requests to Dr. Fernando Scaglia, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030; e-mail: fscaglia{at}bcm.tmc.edu

The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with low CSF levels of 5-methyltetrahydrofolate, the biologically active form of folates in CSF and blood. Folate and B12 levels were normal in peripheral tissues, suggesting cerebral folate deficiency. Treatment with folinic acid corrected CSF abnormalities and improved motor skills.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the March 22 issue to find the link for this article.

Supported by the Mental Retardation Research Center (MRRC) of Baylor College of Medicine. P.M. is supported by NIH NS043969–03.

Received July 19, 2004. Accepted in final form November 17, 2004.




This article has been cited by other articles:


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J. L. Bonkowsky, V. T. Ramaekers, E. V. Quadros, and M. Lloyd
Progressive Encephalopathy in a Child with Cerebral Folate Deficiency Syndrome
J Child Neurol, December 1, 2008; 23(12): 1460 - 1463.
[Abstract] [PDF]


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