title: Cerebral folate deficiency: life-changing supplementation with folinic acid.
abstract: Cerebral folate deficiency is characterized by low cerebrospinal fluid (CSF) concentrations of 5-methyltetrahydrofolate and a broad spectrum of clinical signs and symptoms. A patient with progressive spasticity, gait disturbance, speech difficulties, initially diagnosed as a recessive spastic paraplegia recovered on folinic acid (15-30 mg/day) and her 5-methyltetrahydrofolate in CSF normalized. This report demonstrates the importance of CSF investigation in the diagnosis of cerebral folate deficiency and efficiency of folinic acid (5-formyltetrahydrofolate) supplementation.
authors.affiliation: Division of Pediatric Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
authors.forename: Flemming Juul
authors.initials: FJ
authors.lastname: Hansen
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
mesh_terms: D001927:Brain Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000188:drug therapy*; D002648:Child; D002675:Child, Preschool; D019587:Dietary Supplements; D004305:Dose-Response Relationship, Drug; D005260:Female; D005494:Folic Acid Deficiency / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000188:drug therapy*; D005684:Gait; D006801:Humans; D002955:Leucovorin / Q000627:therapeutic use*; D008019:Life Style; D009069:Movement Disorders / Q000188:drug therapy; D010264:Paraplegia / Q000175:diagnosis / Q000209:etiology; D011247:Pregnancy; D013064:Speech Disorders / Q000188:drug therapy; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid
chemical_list: D013763:Tetrahydrofolates; D002955:Leucovorin; C005984:5-methyltetrahydrofolate