ReviewNutrients2022
Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Review in Nutrients, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- A Systematic Review of Folate and the Human Enteric Microbiome: Biological Mechanisms and Clinical Implications.International journal of molecular sciences · 2026Pooled it
- Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.Molecular psychiatry · 2026Article
- Review
- Folate Receptor Alpha Autoantibodies in Vector-Borne Disease Populations.Diseases (Basel, Switzerland) · 2026Article
- Role of Folate Metabolism in Neurodegenerative Diseases: Insight from Experimental and Clinical Studies.Current nutrition reports · 2026Review
- Can Leucovorin (Folinic Acid) Treat Autism Features?CNS drugs · 2026Article
- Folate Receptor Alpha (FRα) and the Developing Brain: From Molecular Function to Neurodevelopmental Outcomes.Molecular neurobiology · 2026Review
- Serum and cerebral folate are normal in Down Syndrome Regression Disorder.Molecular autism · 2026Observational
- Cerebral folate deficiency, developmental difficulties in autism spectrum disorder and the role of leucovorin: a narrative review of mechanisms and clinical evidence.Drugs in context · 2026Review
- Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder.Brain and behavior · 2025Article
- A Case of Cerebral Folate Deficiency due to FOLR1 Mutation in a 10-Year-Old Girl: Clinical Presentation and Treatment Outcomes.Clinical case reports · 2025Article
- Neuroprotective role of pyrroloquinoline quinone in folate deficiency-induced blood-brain barrier disruption.Fluids and barriers of the CNS · 2025Article
- A novel truncated mutation in folate receptor α (FRα) affecting its glycosylation and affinity for folate in a consanguineous family with progressive encephalopathy: follow up and treatment improvement.Molecular biology reports · 2025Article
- Repurposing sulfonamide-scaffolds for enhanced and sustainable malaria therapy.Future medicinal chemistry · 2025Review
- Folate from probiotic bacteria and its therapeutic applications.Archives of microbiology · 2025Review
- A Clinical and Genetic Evaluation of Cases with Folate Receptor α Gene Mutation: A Case Series from Türkiye.Diagnostics (Basel, Switzerland) · 2025Article
- Analysis of the Association Between the SLC19A1 Genetic Variant (rs1051266) and Autism Spectrum Disorders, Cerebral Folate Deficiency, and Clinical and Laboratory Parameters.Journal of molecular neuroscience : MN · 2025Article
- Inherited metabolic epilepsies-established diseases, new approaches.Epilepsia open · 2024Review
- Regulation of folate transport at the mouse arachnoid barrier.Fluids and barriers of the CNS · 2024Article
- Beneficial Effects ofNutrients · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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 (
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.