Adult-Onset Cerebral Folate Deficiency

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. Arch Neurol. 2012; 69(6): 778-779. Published online February 27, 2012. doi:10.1001/archneurol.2011.3036