However, under pathological conditions, such as ALS, TDP-43 accumulates and aggregates in the cytoplasm of the brain and spinal cord (Arai et al., 2006; Mitchell et al., 2015; Neumann et al., 2006) and has been observed to aggregate in skeletal muscle (Tsitkanou et al., 2022). The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.