Genetically, deficiency of SCARB2 is a risk factor in GD and Parkinson’s disease (PD) (Blauwendraat et al., 2019; Michelakakis et al., 2012; Velayati et al., 2011), while complete loss of function of SCARB2 underlies severe progressive myoclonic epilepsy (PME-4) (Tian et al., 2018). The gene discussed is SCARB2; the disease is Progressive myoclonic epilepsy.