In stark contrast, rare or unique TBK1 missense variants are also frequently detected in healthy controls (Cirulli et al., 2015; Freischmidt et al., 2015), although, overall, being significantly enriched in ALS/FTD patients compared to controls (Cirulli et al., 2015). The gene discussed is TBK1; the disease is amyotrophic lateral sclerosis.