Human ALSP brain snRNA-sequencing

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a neurodegenerative disorder affecting the brain's white matter, is caused by heterozygous pathogenic mutations in the CSF1R gene. This study investigated molecular mechanisms underlying ALSP, we analyzed the transcriptional profiles of all brain cell types in post-mortem brain tissues from ALSP patients using single-nucleus RNA-seq (snRNA-seq).