Allelic variants of ELP3 were associated with amyotrophic lateral sclerosis (ALS; a spontaneous, progressive motor neuron disease), in three human populations (Simpson et al., 2009), and, in the same study, two different loss of function mutations in ELP3 and genes important for neuronal communication and survival were identified in a mutagenesis screen in Drosophila. Moreover, dose-dependent motor axonal abnormalities were observed in zebrafish embryos when ELP3 protein levels were knocked down using antisense morpholinos. This evidence concerns the gene ELP3 and motor neuron disorder.