Whole exome sequencing identified a known homozygous pathogenic variant in <i>CYP2U1</i> gene (c.1168C > T, p.Arg390*), which is a disease-causing mutation in autosomal recessive spastic paraplegia type 56 (SPG56). This evidence concerns the gene CYP2U1 and Autosomal recessive spastic paraplegia type 56.