AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.
Ilaria TagliaI Di DonatoS BianchiA CeraseL MontiR MarconiA OrricoA RufaA FedericoM T DottiPublished in: Acta neurologica Scandinavica (2018)
We recommend screening for mutations in AARS2 gene in CSF1R-negative patients, also in the absence of a clear family history and peculiar MRI findings. Our results also suggest that findings of conventional MRI and MR spectroscopy may be useful in prompting the genetic screening.
Keyphrases
- contrast enhanced
- end stage renal disease
- magnetic resonance imaging
- ejection fraction
- chronic kidney disease
- genome wide
- newly diagnosed
- copy number
- magnetic resonance
- peritoneal dialysis
- diffusion weighted imaging
- prognostic factors
- computed tomography
- high resolution
- single molecule
- dna methylation
- patient reported outcomes
- gene expression
- mass spectrometry