Notably, the SIGMAR1 gene is especially contentious due to significant phenotypic overlap; mutations within SIGMAR1 are frequently associated with conditions that exhibit clinical features reminiscent of Amyotrophic Lateral Sclerosis (ALS) (Al-Saif et al., 2011; Luty et al., 2010; Li et al., 2023; Izumi et al., 2018; Kim et al., 2014). The gene discussed is SIGMAR1; the disease is amyotrophic lateral sclerosis.