Extensive genetic testing has been performed in various cases, which included ALS genes (C9orf72, FUS, SOD1, TARDBP), oculopharyngeal muscular dystrophy (PABPN1), Kennedy disease (AR), panels for spinocerebellar ataxia as well as whole-exome sequencing. The gene discussed is C9orf72; the disease is amyotrophic lateral sclerosis.