Should all patients with ALS be tested for mutations in the SOD1 gene?

The SOD1 mutation occurs with a frequency of around 2% of all affected people and is therefore relatively rare. Over 60% of those affected with SOD1 mutations have no abnormalities in their family history. For this reason, genetic testing of the SOD1 gene is recommended for all patients with ALS, regardless of whether there is a known family history of ALS. SOD1 diagnostics can be of decisive importance for further treatment and therapy planning, particularly with regard to the possibility of Tofersen therapy.