Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive degeneration of motor neurons that results in muscle atrophy, dysarthria, gradual paralysis and death usually within 2–5 years from diagnosis.1,2 ALS overlaps with another neurodegenerative disease, frontotemporal dementia (FTD), with TDP-43 as the predominant pathology in both diseases.3 The overwhelming majority, ∼90%, of ALS cases are sporadic. The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.