Two well-described neurodegenerative phenotypes have been associated with pathogenic variants in SETX: autosomal recessive ataxia with oculomotor apraxia type 2 (AOA2; also known as Spinocerebellar Ataxia with Axonal Neuropathy Type 2, SCAN2), and an autosomal dominant juvenile-onset form of motor neuron disease, Amyotrophic Lateral Sclerosis Type 4 (ALS4) [5, 15]. The gene discussed is SETX; the disease is motor neuron disorder.