Based upona comprehensive analysis of the frequency gene mutations according to strength offamily history and clinical syndrome in a large clinical cohort19 and recent findings related to theC9orf72 gene expansion, we recommend that patients with one ormore first -degree relatives with a disease within in the FTD spectrum, includingMND, be screened for MAPT, GRN and C9orf72 genemutations after appropriate counselling in a clinical genetics setting. The gene discussed is C9orf72; the disease is frontotemporal dementia.