Microglial replacement strategy to treat microgliopathy.

Colony-stimulating factor 1 receptor (CSF1R) gene mutation (I794T) is linked to primary microgliopathy manifesting as leukoencephalopathy.

The researchers define the clinical features of patients carrying the CSF1R p. I794T variant and establish a corresponding knockin mouse model.

The authors demonstrate that knockin mice exhibited hallmark features of CSF1R-related disorder (CSF1R-RD).

They show that Csf1rI792T/+ microglia adopt a disease associated state and that a microglial replacement strategy termed “duplicate-cyclic microglial depletion for transplantation” (DCMDT), mitigates cognitive and neuropathological deficits in CSF1R-RD. sciencenewshighlights ScienceMission https://sciencemission.com/microglia-replacement-18450

Li et al. define the clinical features of patients carrying the CSF1R p. I794T variant and establish a corresponding knockin mouse model. They show that Csf1rI792T/+ microglia adopt a disease-associated state and that a microglial replacement strategy, DCMDT, mitigates cognitive and neuropathological deficits in CSF1R-related disorder.