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Page 1
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 …
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Susgun S, Kesim Y, Khalilov D, Sirin NG, Gezegen H, Salman B, Yucesan E, Gokcay G, Korbeyli HK, Balci MC, Iseri SAU, Baykan B, Bebek N. Susgun S, et al. Neurol Sci. 2023 Jul;44(7):2527-2540. doi: 10.1007/s10072-023-06699-8. Epub 2023 Feb 28. Neurol Sci. 2023. PMID: 36849695
Reanalysis of WES data led us to detect a homozygous FOLR1 variant (ENST00000393676.5:c.610C > T, p.(Arg204Ter), rs952165627) in the affected sib-pair. ...
Reanalysis of WES data led us to detect a homozygous FOLR1 variant (ENST00000393676.5:c.610C > T, p.(Arg204Ter), rs952165627) in t …
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 …
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 …
Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach.
Dreha-Kulaczewski S, Sahoo P, Preusse M, Gkalimani I, Dechent P, Helms G, Hofer S, Steinfeld R, Gärtner J. Dreha-Kulaczewski S, et al. J Inherit Metab Dis. 2024 Mar;47(2):387-403. doi: 10.1002/jimd.12713. Epub 2024 Jan 10. J Inherit Metab Dis. 2024. PMID: 38200656
Cerebral folate transport deficiency, caused by a genetic defect in folate receptor alpha, is a devastating neurometabolic disorder that, if untreated, leads to epileptic encephalopathy, psychomotor decline and hypomyelination. ...
Cerebral folate transport deficiency, caused by a genetic defect in folate receptor alpha, is a devastating neur …
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 …
A novel truncated mutation in folate receptor α (FRα) affecting its glycosylation and affinity for folate in a consanguineous family with progressive encephalopathy: follow up and treatment improvement.
Rahma F, Olfa AF, Mahjoub B, Emna MR, Jihene C, Faiza F, Abdelaziz T. Rahma F, et al. Mol Biol Rep. 2025 Jul 11;52(1):699. doi: 10.1007/s11033-025-10781-z. Mol Biol Rep. 2025. PMID: 40643761
INTRODUCTION: Cerebral folate deficiency syndrome (CFDS) is a rare neurometabolic disorder with clinical features including late infantile onset refractory seizures, ataxia, movement disorder, unexplained global developmental delay, and leukoencephalopathy. . …
INTRODUCTION: Cerebral folate deficiency syndrome (CFDS) is a rare neurometabolic disorder with clinical features inclu …
14 results