• Type of mutations
Heterozygous CSF1RMutation
• Suspected pathophysiologic mechanism
ALSP is a neurological disorder caused by genetic mutations. The disease mechanism primarily involves dysfunction of microglia, which are immune cells in the brain. Normally, microglia maintain brain health through two signaling pathways, CSF1R and TREM2/DAP12. When these pathways are disrupted, microglia fail to properly clear damaged neurons and waste, leading to progressive damage of white matter in the brain and neurodegeneration. This dysfunctional microglia cannot effectively combat inflammation, ultimately causing brain dysfunction and resulting in symptoms like cognitive decline, motor impairment, and psychiatric issues.
CSF1R ALSP