title: Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.
abstract: Cerebral folate deficiency is a genetically heterogeneous condition.(1) Mutations in FOLR1 are responsible for a rare but treatable form of cerebral folate deficiency (OMIM #613068).(1) The gene codes for folate receptor alpha (FRα), a specific CNS folate transporter. Individuals with FOLR1-related folate deficiency present with ataxia, dyskinesia, spasticity, seizures, and regression in cognitive abilities and motor skills during early childhood.(2) Seizures commonly observed include generalized tonic-clonic, atonic, and myoclonic.(3) To date, there have been 18 individuals with FOLR1-related cerebral folate deficiency diagnosed in childhood and reported in the literature.(3-5) Early diagnosis is crucial, as high-dose folinic acid (2-5 mg/kg/day) has been reported to be an effective treatment that can ameliorate or even prevent further neurodegeneration, although no long-term treatment studies have been performed.(1,3,5,6) We present the late diagnosis of adult siblings with cerebral folate deficiency due to FOLR1 mutations and their subsequent treatment.
authors.affiliation: Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.
authors.forename: Patrick
authors.initials: P
authors.lastname: Ferreira
authors.affiliation: Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Luco
authors.affiliation: Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Sawyer
authors.affiliation: Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.
authors.forename: Jorge
authors.initials: J
authors.lastname: Davila
authors.affiliation: Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
authors.affiliation: Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.
authors.forename: David A
authors.initials: DA
authors.lastname: Dyment