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Published on: June 28, 2024
Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies
Vincent Th Ramaekers1, Edward V Quadros2
1Autism Reference Center, University of Liege, 4000 Liege, Belgium.
Insights
Cerebral folate deficiency syndrome (CFDS) involves low brain folate levels causing neurological issues. Autoimmunity against folate receptor-alpha (FRα) is the main cause, impacting folate transport to the brain.
Area of Science:
- Neuroscience
- Pediatric Neurology
- Immunology
Background:
- Cerebral folate deficiency syndrome (CFDS) presents as neuropsychiatric or developmental disorders with low cerebrospinal fluid (CSF) folate.
- Normal systemic folate levels contrast with central nervous system folate depletion in CFDS.
- Clinical presentation varies based on intrauterine folate status and age of onset.
Purpose of the Study:
- To review folate receptor-alpha (FRα) autoimmunity in CFDS.
- To detail age-dependent clinical syndromes, diagnostic criteria, and treatment strategies for CFDS.
- To discuss prevention in at-risk populations.
Main Methods:
- Focus on FRα autoimmunity as the primary etiology of CFDS.
- Review of diagnostic criteria for CFDS.
- Discussion of treatment and prevention strategies.
Main Results:
- Serum FRα autoantibodies are the predominant cause of CFDS, inhibiting folate transport across the choroid plexus.
- Other causes include mitochondrial disorders, inborn errors of metabolism, and FOLR1 gene mutations.
- Early diagnosis and intervention are crucial for improved outcomes in CFDS.
Conclusions:
- FRα autoimmunity is the key mechanism underlying most CFDS cases.
- Understanding age-dependent presentations is vital for accurate diagnosis.
- Timely management, including potential prevention strategies, can significantly improve prognosis.
Abstract:
Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decreased CSF folate levels in the presence of normal folate status outside the nervous system. The specific clinical profile appears to be largely determined by the presence or absence of intrauterine folate deficiency as well as postnatal age at which cerebral folate deficiency occurs. The primary cause of CFDS is identified as the presence of serum folate receptor-alpha (FRα) autoantibodies impairing folate transport across the choroid plexus to the brain whereas, in a minority of cases, mitochondrial disorders, inborn errors of metabolism and loss of function mutations of the FRα (FOLR1) gene are identified. Early recognition and diagnosis of CFDS and prompt intervention is important to improve prognosis with successful outcomes. In this article we focus on FRα autoimmunity and its different age-dependent clinical syndromes, the diagnostic criteria, and treatments to be considered, including prevention strategies in this at-risk population.
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