Furthermore, the combination of RNA-seq, SNP genotyping and real-time PCR data from post-mortem brain tissues of FTD and ALS patients revealed an association between the top risk variants of UNC13A and increased expression of the cryptic exon-containing transcripts (Brown et al., 2022; Ma et al., 2022). The gene discussed is UNC13A; the disease is amyotrophic lateral sclerosis.