A role for Elongator in the central nervous system (CNS) has been indicated through identified central pathology in some FD patients, including myelination14 and retinal defects15,16 and the population genomic studies that linked ELP3 variants with amyotrophic lateral sclerosis (ALS)17,18, variants in the ELP2 gene with ID19–21 and ELP4 mutations with ID, autism and epilepsy22–25. Here, ELP2 is linked to amyotrophic lateral sclerosis.