title: Clinical, etiological and therapeutic aspects of cerebral folate deficiency.
abstract: Cerebral folate deficiency is defined as any neurological condition associated with low cerebrospinal fluid folate concentrations. It is becoming increasingly associated with several neurological diseases, either genetic or environmental. Treatment of cerebral folate deficiency by folate supplementation is generally effective, improving the neurological outcome of some patients. However, to treat cerebral folate deficiency, the proper choice of one of the available folate forms is essential. The distinct brain folate metabolism features compared with peripheral folate metabolic pathways strongly suggest the investigation of different folate forms, such as the biologically active folinic acid and 5-methyltetrahydrofolate, since they are efficiently transported to the brain. Regarding the oral doses of the different folate forms, despite the fact that there are some recommendations, there is no general consensus. Further investigation and designing clinical trials are advisable to elucidate these aspects.
authors.affiliation: Clinical Biochemistry, Hospital Sant Joan de Déu and CIBERER, ISCIII, Barcelona, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Molero-Luis
authors.forename: Mercedes
authors.initials: M
authors.lastname: Serrano
authors.forename: Maria M
authors.initials: MM
authors.lastname: O'Callaghan
authors.forename: Cristina
authors.initials: C
authors.lastname: Sierra
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez-Dueñas
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D002526:Cerebellar Diseases / Q000209:etiology* / Q000628:therapy*; D005492:Folic Acid / Q000378:metabolism*; D006801:Humans; D014804:Vitamin B Deficiency / Q000150:complications* / Q000378:metabolism
chemical_list: D005492:Folic Acid
keywords: 5-methyltetrahydrofolate; cerebral folate deficiency; choroid plexus; folate transport and metabolism; folic acid; folinic acid; neurological diseases