Which ALS genes should be analyzed?

The most frequent mutations are found in the genes C9orf72 (8 %), SOD1 (2 %), FUS (1 %) and TARDBP (1 %). Mutations in SOD1 (for Tofersen therapy) and FUS (therapy in development) are therapeutically relevant. Studies and initial genetic therapies are also expected for C9orf72- and TARDBP-associated ALS. These four genes should therefore be investigated as a priority. In the case of specific issues, in particular familial ALS, particular forms of progression and early onset of the disease or other issues, extended panel diagnostics may be necessary, in which more than 20 known ALS genes are analyzed.