Al Khleifat, Iacoangeli [27] reported that structural variants in C9orf72 (repeat expansion), Valosin containing protein VCP (inversion) and erb-b2 receptor tyrosine kinase 4, ERBB4 (deletion) are variously associated with ALS disease risk and phenotype. The gene discussed is C9orf72; the disease is amyotrophic lateral sclerosis.