SETX and spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2: Mutations in the SETX gene are responsible for the rare neurological disorders ALS4, a dominantly inherited form of amyotrophic lateral sclerosis and ataxia with oculomotor apraxia type 2 (AOA2) which are associated with an early onset neurons degeneration (for review see ref. 1).