Disease-causing expansions and variants in two related diseases (spinal and bulbar muscular atrophy or spinal muscular atrophy with progressive myoclonic epilepsy) were also identified in three ALS donors, and the presence of C9ORF72 and AR expansion repeats was confirmed in both donor blood and iPS cell lines (Supplementary Table 2). This evidence concerns the gene AR and Unverricht-Lundborg disease.