Mutation in<i>CPT1C</i>Associated With Pure Autosomal Dominant Spastic Paraplegia

Abstract

This study expands the genetics of autosomal dominant HSP and is the first, to our knowledge, to link mutation in CPT1C with a human disease. The association of the CPT1C mutation with changes in lipid droplet biogenesis supports a role for altered lipid-mediated signal transduction in HSP pathogenesis.