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Arch Neurol. 2012 Jun;69(6):778-9. doi: 10.1001/archneurol.2011.3036.

Adult-onset cerebral folate deficiency.

Author information

1
Departments of Pediatrics and Neuro-oncology, MD Anderson Cancer Center, University of Texas Medical School at Houston, Houston, TX 77030, USA.

Abstract

OBJECTIVE:

To report new manifestations of cerebral folate deficiency, a rare metabolic autoimmune syndrome,in an adult.

DESIGN:

Case report.

SETTING:

University teaching hospital.

PATIENT:

A 58-year-old woman with progressive memory loss and myoclonus presented for medical attention. Results of cerebral spinal fluid analysis showed low levels of tetrahydrobiopterin and 5-methyltetrahydrofolate. The patient's serum folate level was normal. Serum contained folate receptor 1 blocking and binding antibodies.

RESULTS:

The patient was treated successfully with folinic acid supplementation, and after 6 months of treatment,clinical symptoms had resolved.

CONCLUSIONS:

To our knowledge, we report the first case of adult-onset cerebral folate deficiency. Furthermore, this condition could represent a treatable form of early-onset dementia.

PMID:
22371854
DOI:
10.1001/archneurol.2011.3036
[Indexed for MEDLINE]

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