![Immunosuppression to Prevent a Rare Disorder]()
No effective treatments exist for colony stimulating factor-1-related leukodystrophy (CRL), a rare, adult-onset neurodegenerative disorder that usually develops by the fourth decade of life. CRL is caused by mutations in the gene that codes for the colony-stimulating factor-1 cell-receptor (CSF-1R), leading to cognitive and motor impairment, psychiatric disorders, and seizures. Studies have identified a few people who carry CSF-1R mutations but remained asymptomatic into their seventies.
In a study published online on July 30 in Glia, E. Richard Stanley, Ph.D., and colleagues report that some healthy carriers of CSF-1R mutations had received long-term treatment with glucocorticoids drugs, which suppress the immune system. In studies involving a mouse model of CRL, the researchers showed that chronically administering the glucocorticoid prednisone to CRL mice before onset of symptoms prevented the development of symptoms including deficits in memory and motor coordination. The findings suggest that using glucocorticoids pre-symptomatically could significantly reduce the incidence of CRL in CSF-1R mutation carriers.
Dr. Stanley is professor emeritus and interim chair of developmental and molecular biology and holds the Renée E. and Robert A. Belfer Chair in Developmental Biology at Einstein.
Posted on: Wednesday, August 23, 2023