Yuanyuan Cai

Jun 11, 2024 | biorxiv.org | Jingying Wu |Yafei Wang |Xiaoyu Li |Yuanyuan Cai

AbstractMicroglia play critical roles in the brain physiology and pathology. CSF1R is primarily expressed in microglia. The mono-allelic CSF1R mutation causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a lethal neurological disease and no rational cure in clinical trials. There are no animal models mimicking human ALSP. In this study, we first developed mouse models based on human ALSP hotspot mutations.