Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder

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dc.authoridSERIN, Hepsen Mine/0000-0002-6296-1048
dc.authoridKanmaz, Seda/0000-0002-8738-1242
dc.authorid, sanem/0000-0002-8719-0665
dc.authoridSimsek, Erdem/0000-0002-4413-8779
dc.authorscopusid57205023509
dc.authorscopusid57189047650
dc.authorscopusid36571118200
dc.authorscopusid32867707600
dc.authorscopusid55331029300
dc.authorscopusid6507501701
dc.authorwosidKanmaz, Seda/ABM-0776-2022
dc.authorwosidSimsek, Erdem/A-9776-2018
dc.contributor.authorKanmaz, Seda
dc.contributor.authorSimsek, Erdem
dc.contributor.authorYilmaz, Sanem
dc.contributor.authorDurmaz, Asude
dc.contributor.authorSerin, Hepsen Mine
dc.contributor.authorGokben, Sarenur
dc.date.accessioned2023-01-12T19:51:45Z
dc.date.available2023-01-12T19:51:45Z
dc.date.issued2021
dc.departmentN/A/Departmenten_US
dc.description.abstractCerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of folaten in cerebrospinal fluid (CSF) arising from different causes such as FOLR1 gene mutations or autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus. It is characterized by late infantile onset refractory seizures, ataxia, movement disorder, and unexplained global developmental delay. Here, we report a patient diagnosed with autistic spectrum disorder, followed by refractory myoclonic-atonic seizures, ataxia, and loss of motor skills over time. A homozygous missense (c.665A > G) mutation in FOLR1 gene and extremely low CSF 5-methyltetrahydrofolate level led to the diagnosis of CFD. Although she was initiated on combined oral and intravenous high doses of folinic acid treatment at 6 years of age, mild improvement was achieved in terms of epileptic seizures and motor skills. It is important that CFD should be kept in mind in cases with refractory myoclonic-atonic seizure and folinic acid treatment should be started as soon as possible.en_US
dc.identifier.doi10.1007/s13760-021-01700-7
dc.identifier.issn0300-9009
dc.identifier.issn2240-2993
dc.identifier.pmid34002331en_US
dc.identifier.scopus2-s2.0-85105938620en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1007/s13760-021-01700-7
dc.identifier.urihttps://hdl.handle.net/11454/76324
dc.identifier.wosWOS:000651325900001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofActa Neurologica Belgicaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMyoclonic seizureen_US
dc.subjectFOLR1en_US
dc.subjectEpileptic encephalopathyen_US
dc.subjectCerebral folate deficiencyen_US
dc.subjectFolinic aciden_US
dc.subjectFolinic-Aciden_US
dc.subjectImprovementen_US
dc.subjectMutationsen_US
dc.titleCerebral folate transporter deficiency: a potentially treatable neurometabolic disorderen_US
dc.typeArticleen_US

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