Mutations of CASA members in humans lead to severe human diseases, including skeletal muscle myopathies, cardiomyopathies (Martin et al., 2021), kidney filtration failure (proteinuria) (Perico et al., 2016), Alzheimer disease and other neuropathies (Counts et al., 2014; Datta et al., 2017; Ji et al., 2019; Adriaenssens et al., 2020). Here, CSN1S1 is linked to early-onset autosomal dominant Alzheimer disease.