Pnkp mutations in humans have been associated with a variety of neurological disease phenotypes, and transgenic mouse model studies have highlighted the neurodevelopmental or neurodegenerative defects that result from Pnkp loss (Shen et al, 2010; Nakashima et al, 2014; Shimada et al, 2015; Dumitrache & McKinnon, 2017; Bermúdez-Guzmán & Leal, 2019; Gatti et al, 2019; Kalasova et al, 2019). The gene discussed is PNKP; the disease is nervous system disorder.