The novel NM_001168272: c.2714A > G (chr3.hg19: g.4716912A > G, N905S) is in the same exon/functional region as the variant site (c.2687C > T), which is associated with HSP and the clinical features of patients that are ITPR1-related HSP (9). This evidence concerns the gene ITPR1 and hereditary spastic paraplegia.