To further investigate these observations, we assessed RBP binding motif enrichment to identify potential upstream regulators of splicing. All four significantly enriched RBP binding motifs were targeted by RBPs that have been implicated to varying degrees in neurodegenerative diseases, with HNRNPC implicated in AD [90], and FUS, HNRNPC, HNRNPM and PCBP2 associated with frontotemporal dementia (FTD) [11]. The gene discussed is HNRNPC; the disease is neurodegenerative disease.