Previous studies in ALS (total n = 895) [7, 11, 28, 33], and FTLD (total n = 358) [17, 28] estimated the frequency of SQSTM1 coding mutations at 2.42–3.28 % in ALS and 1.76–2.13 % in FTLD. The gene discussed is SQSTM1; the disease is amyotrophic lateral sclerosis.