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Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV. Ramaekers VT, et al. Nutrients. 2022 Jul 28;14(15):3096. doi: 10.3390/nu14153096. Nutrients. 2022. PMID: 35956272 Free PMC article. Review.
Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decreased CSF folate levels in the presence of normal folate status outside the nervous system. The specific clinical profile appears to b …
Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized b …
Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
Kanmaz S, Simsek E, Yilmaz S, Durmaz A, Serin HM, Gokben S. Kanmaz S, et al. Acta Neurol Belg. 2023 Feb;123(1):121-127. doi: 10.1007/s13760-021-01700-7. Epub 2021 May 17. Acta Neurol Belg. 2023. PMID: 34002331
Cerebral 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 fo …
Cerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active for …
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S. Pope S, et al. J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2. J Inherit Metab Dis. 2019. PMID: 30916789 Review.
Other secondary causes of cerebral folate deficiency include the effects of drugs, immune response activation, toxic insults and oxidative stress. This review describes the absorption, transport and metabolism of folate within the body; analytical methods to …
Other secondary causes of cerebral folate deficiency include the effects of drugs, immune response activation, toxic in …
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G. Potic A, et al. Orphanet J Rare Dis. 2023 Jul 13;18(1):187. doi: 10.1186/s13023-023-02802-6. Orphanet J Rare Dis. 2023. PMID: 37443037 Free PMC article. Review.
BACKGROUND: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. ...Exome sequencing revealed a novel homozygous pathogenic variant in FOLR1 …
BACKGROUND: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder …
Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.
Ramaekers VT, Segers K, Sequeira JM, Koenig M, Van Maldergem L, Bours V, Kornak U, Quadros EV. Ramaekers VT, et al. Mol Genet Metab. 2018 May;124(1):87-93. doi: 10.1016/j.ymgme.2018.03.001. Epub 2018 Mar 3. Mol Genet Metab. 2018. PMID: 29661558
INTRODUCTION: Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport a …
INTRODUCTION: Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folat …
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.
Cao X, Wolf A, Kim SE, Cabrera RM, Wlodarczyk BJ, Zhu H, Parker M, Lin Y, Steele JW, Han X, Ramaekers VT, Steinfeld R, Finnell RH, Lei Y. Cao X, et al. J Med Genet. 2021 Jul;58(7):484-494. doi: 10.1136/jmedgenet-2020-106987. Epub 2020 Aug 20. J Med Genet. 2021. PMID: 32820034 Free PMC article.
Background Cerebral folate deficiency (CFD) syndrome is characterised by a low concentration of 5-methyltetrahydrofolate in cerebrospinal fluid, while folate levels in plasma and red blood cells are in the low normal range. ...Functional analysis indicates th …
Background Cerebral folate deficiency (CFD) syndrome is characterised by a low concentration of 5-methyltetrahydrofolat …
CIC missense variants contribute to susceptibility for spina bifida.
Han X, Cao X, Aguiar-Pulido V, Yang W, Karki M, Ramirez PAP, Cabrera RM, Lin YL, Wlodarczyk BJ, Shaw GM, Ross ME, Zhang C, Finnell RH, Lei Y. Han X, et al. Hum Mutat. 2022 Dec;43(12):2021-2032. doi: 10.1002/humu.24460. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36054333 Free PMC article.
Our previous study demonstrated that CIC loss of function (LoF) variants contributed to the cerebral folate deficiency syndrome by downregulating folate receptor 1 (FOLR1) expression. ...We determined that CIC variants decreased the FOLR1 protei …
Our previous study demonstrated that CIC loss of function (LoF) variants contributed to the cerebral folate deficiency …
Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.
Kobayashi Y, Tohyama J, Akiyama T, Magara S, Kawashima H, Akasaka N, Nakashima M, Saitsu H, Matsumoto N. Kobayashi Y, et al. Brain Dev. 2017 Mar;39(3):266-270. doi: 10.1016/j.braindev.2016.09.011. Epub 2016 Oct 12. Brain Dev. 2017. PMID: 27743887
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. ...Our patient shows that folinic acid therapy can ameliorate the clinical symptoms, …
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder re …
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Brunetti S, Malerba L, Giordano L, Parrini E, Guerrini R, Palumbo G, Parazzini C, Bestetti I, Accorsi P. Brunetti S, et al. Am J Med Genet A. 2021 Aug;185(8):2526-2531. doi: 10.1002/ajmg.a.62345. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008900
We describe three siblings carrying a novel homozygous FOLR1 nonsense mutation, that were referred due to intractable epilepsy and progressive neurological decline. ...Folinic acid (oral and intravenous) supplementation, initiated after over 15 years illness, has failed to …
We describe three siblings carrying a novel homozygous FOLR1 nonsense mutation, that were referred due to intractable epilepsy and pr …
First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.
Zhang C, Deng X, Wen Y, He F, Yin F, Peng J. Zhang C, et al. BMC Med Genet. 2020 Nov 26;21(1):235. doi: 10.1186/s12881-020-01162-3. BMC Med Genet. 2020. PMID: 33243190 Free PMC article.
BACKGROUND: Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). ...Whole Exome Sequencing (WES) uncovered a homozygous missense variant …
BACKGROUND: Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of …
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