Adult-Onset Cerebral Folate Deficiency

Abstract

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

Mitochondrial One-Carbon Metabolism and Alzheimer’s Disease

“…Folate receptor α transports folate across the mammalian blood–brain barrier and choroid plexus into the brain and cerebrospinal fluids [ 38 , 39 , 40 , 41 ]. Autoantibodies against this receptor can block its function and have been shown to occur in psychiatric conditions [ 42 , 43 , 44 ].…”

“…Folate receptor α transports folate across the mammalian blood-brain barrier and choroid plexus into the brain and cerebrospinal fluids [38][39][40][41]. Autoantibodies against this receptor can block its function and have been shown to occur in psychiatric conditions [42][43][44]. At the core is a pterin heterocyclic ring (2-amino-4-hydroxy-pteridine, yellow), which is connected via a methylene bridge to a p-aminobenzoyl group (blue).…”

Mitochondrial One-Carbon Metabolism and Alzheimer’s Disease

“…Folate receptor α transports folate across the mammalian blood–brain barrier and choroid plexus into the brain and cerebrospinal fluids [ 38 , 39 , 40 , 41 ]. Autoantibodies against this receptor can block its function and have been shown to occur in psychiatric conditions [ 42 , 43 , 44 ].…”

“…Folate receptor α transports folate across the mammalian blood-brain barrier and choroid plexus into the brain and cerebrospinal fluids [38][39][40][41]. Autoantibodies against this receptor can block its function and have been shown to occur in psychiatric conditions [42][43][44]. At the core is a pterin heterocyclic ring (2-amino-4-hydroxy-pteridine, yellow), which is connected via a methylene bridge to a p-aminobenzoyl group (blue).…”

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies

“…There is one report of an adult female suffering from dementia and myoclonus where a CFD syndrome was found [ 71 ]. No other reports on the different forms of dementia conditions were studied or reported in the literature.…”

Folate nutrition and blood–brain barrier dysfunction

“…Autoantibodies against the folate receptor alpha (FRα) that block folate transport across the blood-brain barrier have been correlated with low CSF folate (49–52). The presence of autoantibodies against FRα and cerebral folate deficiency are seen in some autism spectrum disorders, depression, schizophrenia and seizures (51).…”

“…The patient’s serum contained high levels of FRα autoantibodies. The clinical symptoms resolved following 6 months of reduced folate administration (25 mg/d)(52). …”

Mitochondrial One-Carbon Metabolism and Alzheimer’s Disease

“…Folate receptor α transports folate across the mammalian blood–brain barrier and choroid plexus into the brain and cerebrospinal fluids [ 38 , 39 , 40 , 41 ]. Autoantibodies against this receptor can block its function and have been shown to occur in psychiatric conditions [ 42 , 43 , 44 ].…”

“…Folate receptor α transports folate across the mammalian blood-brain barrier and choroid plexus into the brain and cerebrospinal fluids [38][39][40][41]. Autoantibodies against this receptor can block its function and have been shown to occur in psychiatric conditions [42][43][44]. At the core is a pterin heterocyclic ring (2-amino-4-hydroxy-pteridine, yellow), which is connected via a methylene bridge to a p-aminobenzoyl group (blue).…”

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies

“…There is one report of an adult female suffering from dementia and myoclonus where a CFD syndrome was found [ 71 ]. No other reports on the different forms of dementia conditions were studied or reported in the literature.…”

Folate nutrition and blood–brain barrier dysfunction

“…Autoantibodies against the folate receptor alpha (FRα) that block folate transport across the blood-brain barrier have been correlated with low CSF folate (49–52). The presence of autoantibodies against FRα and cerebral folate deficiency are seen in some autism spectrum disorders, depression, schizophrenia and seizures (51).…”

“…The patient’s serum contained high levels of FRα autoantibodies. The clinical symptoms resolved following 6 months of reduced folate administration (25 mg/d)(52). …”

Mitochondrial One-Carbon Metabolism and Alzheimer’s Disease

“…Folate receptor α transports folate across the mammalian blood–brain barrier and choroid plexus into the brain and cerebrospinal fluids [ 38 , 39 , 40 , 41 ]. Autoantibodies against this receptor can block its function and have been shown to occur in psychiatric conditions [ 42 , 43 , 44 ].…”

“…Folate receptor α transports folate across the mammalian blood-brain barrier and choroid plexus into the brain and cerebrospinal fluids [38][39][40][41]. Autoantibodies against this receptor can block its function and have been shown to occur in psychiatric conditions [42][43][44]. At the core is a pterin heterocyclic ring (2-amino-4-hydroxy-pteridine, yellow), which is connected via a methylene bridge to a p-aminobenzoyl group (blue).…”

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies

“…There is one report of an adult female suffering from dementia and myoclonus where a CFD syndrome was found [ 71 ]. No other reports on the different forms of dementia conditions were studied or reported in the literature.…”

Folate nutrition and blood–brain barrier dysfunction

“…Autoantibodies against the folate receptor alpha (FRα) that block folate transport across the blood-brain barrier have been correlated with low CSF folate (49–52). The presence of autoantibodies against FRα and cerebral folate deficiency are seen in some autism spectrum disorders, depression, schizophrenia and seizures (51).…”

“…The patient’s serum contained high levels of FRα autoantibodies. The clinical symptoms resolved following 6 months of reduced folate administration (25 mg/d)(52). …”