The p.L302P mutation in the lysosomal enzyme gene <i>SMPD1</i> is a risk factor for Parkinson disease

Abstract

The SMPD1 p.L302P mutation is a novel risk factor for PD. Although it is rare on a population level, the identification of this mutation as a strong risk factor for PD may further elucidate PD pathogenesis and the role of lysosomal pathways in disease development.