Genetic variants at the UNC13A locus were previously reported to confer an increased risk for ALS/FTD [56, 57], and recent studies demonstrate that the risk haplotype not only locates within the cryptic exon itself, but also leads to decreased ability of TDP-43 and other hnRNPs to bind and repress cryptic exon inclusion in UNC13A [29, 30, 58]. This evidence concerns the gene TARDBP and amyotrophic lateral sclerosis.