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Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient

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References

  1. Steinfeld R, Grapp M, Kraetzner R et al (2009) Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet 85(3):354–363. doi:10.1016/j.ajhg.2009.08.005

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Ramaekers V, Sequeira JM, Quadros EV (2013) Clinical recognition and aspects of the cerebral folate deficiency syndromes. Clin Chem Lab Med 51(3):497–511. doi:10.1515/cclm-2012-0543

    Article  CAS  PubMed  Google Scholar 

  3. Serrano M, Perez-Duenas B, Montoya J et al (2012) Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. Drug Discov Today 17(23–24):1299–1306. doi:10.1016/j.drudis.2012.07.008

    Article  CAS  PubMed  Google Scholar 

  4. Perez-Duenas B, Ormazabal A, Toma C et al (2011) Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. Arch Neurol 68(5):615–621. doi:10.1001/archneurol.2011.80

    Article  PubMed  Google Scholar 

  5. Steinfeld R (2014) Folate pathway and transport disorders. In: Blau N, Hoffmann GF (eds) Congenital neurotransmitter disorders: a clinical approach. Nova Science Publishers Inc., New York, pp 167–187

    Google Scholar 

  6. Grapp M, Just IA, Linnankivi T et al (2012) Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency. Brain 135(Pt 7):2022–2031. doi:10.1093/brain/aws122

    Article  CAS  PubMed  Google Scholar 

  7. Weitman S, Lark R, Coney L et al (1992) Distribution of the folate receptor GP38 in normal and malignant cell lines and tissues. Cancer Res 15 52(12):3396–3401

    CAS  Google Scholar 

  8. Verrotti A, Pascarella R, Trotta D et al (2000) Hyperhomocysteinemia in children treated with sodium valproate and carbamazepine. Epilepsy Res 41(3):253–257

    Article  CAS  PubMed  Google Scholar 

  9. Huemer M, Ausserer B, Graninger G et al (2000) Hyperhomocysteinemia in children treated with antiepileptic drugs is normalized by folic acid supplementation. Epilepsia 46(10):1677–1683. doi:10.1111/j.1528-1167.2005.00264.x

    Article  Google Scholar 

  10. Mangold S, Blau N, Opladen T et al (2011) Cerebral folate deficiency: a neurometabolic syndrome? Mol Genet Metab 104(3):369–372. doi:10.1016/j.ymgme.2011.06.004

    Article  CAS  PubMed  Google Scholar 

  11. Hansen FJ, Blau N (2005) Cerebral folate deficiency: life-changing supplementation with folinic acid. Mol Genet Metab 84(4):371–373. doi:10.1016/j.ymgme.2004.12.001

    Article  CAS  PubMed  Google Scholar 

  12. Toelle SP, Wille D, Schmitt B et al (2014) Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency. Epileptic Disord 16(1):88–92. doi:10.1684/epd.2014.0629

    PubMed  Google Scholar 

  13. Cario H, Bode H, Debatin KM et al (2009) Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. Neurology 73(24):2127–2129. doi:10.1212/WNL.0b013e3181c679df

    Article  CAS  PubMed  Google Scholar 

  14. Perez-Duenas B, Toma C, Ormazabal A et al (2010) Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis 33(6):795–802. doi:10.1007/s10545-010-9196-1

    Article  PubMed  Google Scholar 

  15. Kobayashi Y, Tohyama J, Akiyama T et al (2016) Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency. Brain Dev S0387–7604(16):30160–30167. doi:10.1016/j.braindev.2016.09.011

    Google Scholar 

  16. Delmelle F, Thöny B, Clapuyt P et al (2016) Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation. Eur J Paediatr Neurol 20(5):709–713. doi:10.1016/j.ejpn.2016.05.021

    Article  PubMed  Google Scholar 

  17. Dill P, Schneider J, Weber P et al (2011) Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Mol Genet Metab 104(3):362–368. doi:10.1016/j.ymgme.2011.05.019

    Article  CAS  PubMed  Google Scholar 

  18. Kamen BA, Smith AK (2004) A review of folate receptor alpha cycling and 5-methyltetrahydrofolate accumulation with an emphasis on cell models in vitro. Adv Drug Deliv Rev 56(8):1085–1097. doi:10.1016/j.addr.2004.01.002

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, Friedrich-Baur-Institute, University of Munich, Ziemssenstr. 1, 80336, Munich, Germany

    Ivan Karin, Claudia B. Catarino, Christoph Kuhm & Thomas Klopstock

  2. German Network for Mitochondrial Disorders (mitoNET), Munich, Germany

    Ivan Karin, Claudia B. Catarino, Christoph Kuhm & Thomas Klopstock

  3. Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, Munich, Germany

    Ingo Borggraefe & Florian Heinen

  4. CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany

    Konstanze Hoertnagel & Saskia Biskup

  5. Division of Inborn Metabolic Diseases, University Children’s Hospital, Heidelberg, Germany

    Thomas Opladen & Nenad Blau

  6. Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

    Thomas Klopstock

  7. DZNE-German Center for Neurodegenerative Diseases, Munich, Germany

    Thomas Klopstock

Authors
  1. Ivan Karin
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  2. Ingo Borggraefe
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  3. Claudia B. Catarino
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  4. Christoph Kuhm
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  5. Konstanze Hoertnagel
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  6. Saskia Biskup
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  7. Thomas Opladen
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  8. Nenad Blau
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  9. Florian Heinen
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  10. Thomas Klopstock
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Corresponding author

Correspondence to Ivan Karin.

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Karin, I., Borggraefe, I., Catarino, C.B. et al. Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. J Neurol 264, 578–582 (2017). https://doi.org/10.1007/s00415-016-8387-6

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  • DOI: https://doi.org/10.1007/s00415-016-8387-6

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