Mutations in the SETX gene are associated with the progressive neurological disorders Amyotrophic lateral sclerosis 4 (ALS4) and Ataxia with oculomotor apraxia 2 (AOA2) (20,21), highlighting the importance of SETX functions in the cell. This evidence concerns the gene SETX and spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2.