Litcius/Paper detail

Potential use of glucocorticosteroids in CSF1R mutation carriers – current evidence and future directions

Jarosław Dulski, E. Richard Stanley, Violeta Chiţu, Zbigniew K. Wszołek

2023Neurologia i Neurochirurgia Polska11 citationsDOIOpen Access PDF

Abstract

We recently found that glucocorticosteroids (GCs) have protective effects in CSF1R mutation carriers against developing symptomatic CSF1R-related leukoencephalopathy. Our findings were subsequently confirmed in a mouse model study. We have received many questions from patients, their families, patient organisations, and healthcare practitioners about the optimal type of GCs, the dose, the route of administration, and application timing. This paper attempts to answer the most urgent of these questions based on our previous studies and personal observations. Despite the promising observations, more research on larger patient groups is needed to elucidate the beneficial actions of GCs in CSF1R mutation carriers.

Topics & Concepts

MedicineLeukoencephalopathyMutationIntensive care medicineBioinformaticsInternal medicineGeneticsGeneDiseaseBiologyRNA regulation and diseaseAdvanced biosensing and bioanalysis techniquesNeuroinflammation and Neurodegeneration Mechanisms