Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
Known defects of folate transport are deficiency of the proton coupled folate transporter, associated with systemic as well as cerebral folate deficiency, and deficiency of the folate receptor alpha, leading to an isolated cerebral folate deficiency associated with intractable seizures, developmental delay and/or regression, progressive ataxia and choreoathetoid movement disorders.
|
30916789 |
2019 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
BEFREE |
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 across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders.
|
29661558 |
2018 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
CLINGEN |
Folate receptor 1 is necessary for neural plate cell apical constriction during Xenopus neural tube formation.
|
28255006 |
2017 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
A diagnosis of cerebral folate deficiency was confirmed by a homozygous c.466T>G (p.W156G) mutation in FOLR1, coupled with extremely low cerebrospinal fluid levels of 5-methyltetrahydrofolate.
|
27743887 |
2017 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
BEFREE |
Folate receptor alpha (FRα) autoantibodies have been associated with fetal abnormalities and cerebral folate deficiency-related developmental disorders.
|
27646260 |
2017 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
CLINGEN |
We present the cases of two sisters with cerebral folate transport deficiency caused by mutation in the folate receptor 1 (FOLR1) gene (MIM *136430).
|
27328863 |
2016 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
CLINGEN |
(1,3,5,6) We present the late diagnosis of adult siblings with cerebral folate deficiency due to FOLR1 mutations and their subsequent treatment.
|
27066576 |
2016 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
We present the cases of two sisters with cerebral folate transport deficiency caused by mutation in the folate receptor 1 (FOLR1) gene (MIM *136430).
|
27328863 |
2016 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
|
27830117 |
2016 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
We present the cases of two sisters with cerebral folate transport deficiency caused by mutation in the folate receptor 1 (FOLR1) gene (MIM *136430).
|
27328863 |
2016 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
|
25046240 |
2015 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
CLINGEN |
Delayed myelination and cerebellar atrophy on cranial MRI were important clues to the diagnosis of cerebral folate transport deficiency, which was confirmed by homozygosity for the known nonsense mutation p.R204X in the FOLR1 gene.
|
24556562 |
2014 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
CLINGEN |
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures.
|
25274592 |
2014 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
CLINGEN |
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
|
24091540 |
2013 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
Thus, our studies suggest that different clinical severities do not necessarily correlate with residual function of folate receptor alpha mutants and indicate that additional factors contribute to the clinical phenotype in cerebral folate transport deficiency.
|
22586289 |
2012 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
CLINGEN |
Thus, our studies suggest that different clinical severities do not necessarily correlate with residual function of folate receptor alpha mutants and indicate that additional factors contribute to the clinical phenotype in cerebral folate transport deficiency.
|
22586289 |
2012 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
BEFREE |
While the FRα defect is a disorder of brain-specific folate transport accompanied with cerebral folate deficiency (CFD) causing progressive neurological symptoms, LAMM syndrome is a solely malformative condition, with normal physical growth and cognitive development.
|
21752681 |
2011 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
CLINGEN |
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).
|
21752681 |
2011 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
GeneticVariation
|
phenotype |
BEFREE |
We report a case of cerebral folate transport deficiency due to a novel homozygous mutation in the FOLR1 gene, in an effort to clarify phenotype-genotype correlation in this newly identified neurometabolic disorder.
|
20857335 |
2010 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
We report a case of cerebral folate transport deficiency due to a novel homozygous mutation in the FOLR1 gene, in an effort to clarify phenotype-genotype correlation in this newly identified neurometabolic disorder.
|
20857335 |
2010 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
CLINGEN |
We report a case of cerebral folate transport deficiency due to a novel homozygous mutation in the FOLR1 gene, in an effort to clarify phenotype-genotype correlation in this newly identified neurometabolic disorder.
|
20857335 |
2010 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
CausalMutation
|
phenotype |
CLINVAR |
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.
|
19732866 |
2009 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.
|
19732866 |
2009 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
0.790 |
CausalMutation
|
phenotype |
CLINVAR |
Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.
|
20018644 |
2009 |