FOLR1 Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 Years.
Carlo MancoRosa CorteseManfredi AlbertiSilvia BianchiLucia MontiNicola De StefanoCarla BattistiPublished in: Neurology. Genetics (2023)
Scientific evidence supports the deleterious effect of c.45G>T and c.493+2T>C variations on the folate receptor-α (FRα) protein structure and function. The weakness of the expression and function of FRα without elimination of its function caused by specific compound heterozygous variations may explain the atypical features observed in our patient. Although rare, CFD should be considered in paucisymptomatic adult patients with stable diffuse MRI white matter changes.
Keyphrases
- white matter
- contrast enhanced
- magnetic resonance imaging
- binding protein
- poor prognosis
- diffusion weighted imaging
- early onset
- multiple sclerosis
- copy number
- genome wide
- gene expression
- amino acid
- protein protein
- replacement therapy
- small molecule
- young adults
- transcription factor
- cerebral ischemia
- cerebral blood flow