PHB1 and hereditary spastic paraplegia: The c.452 C > T single nucleotide variant resulted in an alanine to valine substitution at amino acid position 151 (p.Ala151Val) within the stomatin/prohibitin/flotillin/HflK/C(SPFH) domain of ERLIN2. The p.Ala151Val showed a high pathogenic effect score by the prediction programs indicating on the genetic cause of HSP in the family (Table 3),and also the p.Ala151Val is located in a region that is highly conserved in other species (Fig. 1D).