Further studies should include serial samples from greater numbers of patients, including pre-symptomatic mutation carriers and patients with sporadic FTD and ALS, and long term follow-up to enable post-mortem neuropathological confirmation of TDP-43 neuropathology and to provide the opportunity to identify phenoconversion from pre-symptomatic TDP-43 proteinopathy. Here, TARDBP is linked to amyotrophic lateral sclerosis.