Introduction:The pathophysiology of amyotrophic lateral sclerosis (ALS), for the most part, is of unknown origin. However, it is known that in worldwide parameters, mutations of the superoxide dismutase 1 gene (SOD1) occupy about 20% of the cases of familial ALS, and mutations related to the TARDBP gene are responsible for 1-5% of SOD1-negative familial cases, as well as in some cases of sporadic ALS. Several studies have discussed TARDBP mutations in patients with ALS, or even in cases of frontotemporal dementia. At present, the search remains to clarify whether patients with ALS and with TARDBP mutations have a particular clinical presentation, with frequent or exceptional frontotemporal dementia, and whether, as for SOD1, some mutations may have an influence on the phenotype.