Previous studies have shown that Smpd3 deletion in mouse models causes juvenile dwarfism, delayed puberty, skeletal growth inhibition due to disruption of the Golgi secretory pathway of chondrocytes and progressive cognitive impairment similar to Alzheimer's disease (Stoffel et al., 2016, 2019). Here, SMPD3 is linked to early-onset autosomal dominant Alzheimer disease.