All patients underwent genetic testing, with four cases with mutations in C9ORF72, three cases of superoxide dismutase 1 (SOD1), one case of vesicle-associated membrane protein-associated protein B/C (VAPB), one case of a juvenile ALS with senataxin (SETX) mutation and an uncertain familial link emerging. The gene discussed is VAPB; the disease is amyotrophic lateral sclerosis.