SETX and autosomal dominant proximal spinal muscular atrophy: Mutations in the SETX gene is associated not only with the disease phenotype of AOA2/SCAN2 (OMIM #606002), which is autosomal recessive, but can also cause autosomal dominant phenotypes, including amyotrophic lateral sclerosis 4 [6], tremor ataxia syndrome [34], and autosomal dominant proximal spinal muscular atrophy [35].