Cerebral folate deficiency is a relatively new metabolic disorder. (Several years ago I blogged on this condition. You can read more details here). I find that many families that I work with when approaching their neurologists about testing for cerebral folate deficiency, are often met with a lack of understanding that this is a metabolic disorder that can cause seizures and other co-morbidities. In those rare circumstances that the neurologist is aware of this metabolic condition, they may pursue testing if the patient is an infant. However, there is information putting forth that cerebral folate deficiency may be more present than we think. It seems to be true in this adult onset case, that although did not manifest into a seizure disorder, other neurological symptoms presented.
In the paper titled “Adult onset cerebral folate deficiency” the researchers discusses a rare manifestation of cerebral folate deficiency (CFD) in a 58-year-old woman, contributing to a deeper understanding of this autoimmune syndrome in adults. The patient exhibited progressive memory loss and myoclonus, prompting a series of analyses that revealed low levels of tetrahydrobiopterin and 5-methyltetrahydrofolate in her cerebrospinal fluid (CSF), while her serum folate levels remained normal. Notably, antibodies against folate receptor 1 were present, which indicates an autoimmune component to her deficiency. After receiving treatment with folinic acid, the patient’s symptoms significantly resolved within six months, and her CSF levels normalized.
This report is significant as it appears to be the first documented case of adult-onset cerebral folate deficiency, suggesting that CFD may represent a treatable cause of early-onset dementia. The authors emphasize the importance of conducting CSF analyses in patients with autoimmune diseases who present symptoms similar to dementia. By expanding the profile of CFD, the study encourages clinicians to consider this condition in differential diagnoses, highlighting its potential for recovery with appropriate treatment.
This is equally significant in that it recognizes that CFD may present later in life. Can this be a cause for late-onset seizure disorders? I will certainly pursue this when working with clients.
It should be noted that testing can be as simple as a blood draw for folate receptor antibodies. I’ve worked with this company for a few years within the US and outside of the US. For many of my clients I’d recommend this test. https://www.fratnow.com/
Much light,
Lynn
