All patients were screened for the RE in the C9orf72 gene and for mutations in SOD1, FUS, and TARDBP. 207 patients, enriched for a positive family history, were also analyzed by NGS multigene panels to verify the presence of mutations in the rare genes associated with ALS or the ALS/FTD continuum, and other dementia genes. The gene discussed is C9orf72; the disease is dementia.