Single-nucleus RNA-Sequencing and ATAC-Sequencing of frontal cortex from C9orf72-linked amyotrophic lateral sclerosis and frontotemporal lobar degeneration

Sequencing data pertaining to the analysis of snRNA-Seq and snATAC-Seq in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Hexanucleotide repeat expansions in a noncoding region of C9orf72 (C9) most commonly cause ALS and frontotemporal dementia (FTD). FTLD is observed in approximately 50% of ALS patients, and 15% of ALS cases meet the clinical criteria for FTD. This current study generated a single nucleus transcriptomic and open chromatin atlas of orbitofrontal cortex cells to identify cell subtype-specific pathways altered in C9-ALS/FTLD (n=6), C9-ALS no FTLD (n=3), a rare mosaic C9 no ALS no FTLD (n=1), and sporadic ALS no FTLD (n=8) versus non-neurological disease controls (n=6). Samples were stratified as containing TDP-43 pathology with associated FTLD or not.