When coupled with autoptic findings documenting high levels of pathologic TDP-43 in the motor cortex and spinal cord of ALS patients with C9ORF72 and ATXN-2 expansions [86], these pieces of evidence suggest that autophagy impairment may be a mechanistic link between TDP-43 aggregation and ALS-related repeat expansions. The gene discussed is ATXN2; the disease is amyotrophic lateral sclerosis.