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. 2018 Jul 3;84(1):51–63. doi: 10.1002/ana.25263

Figure 4.

Figure 4

HSP‐related mutation burden in PPMS, SPMS, RMS, and controls. Examination of 314 PPMS, 2,248 RMS, 587 SPMS, and 987 control subjects from four cohorts (UCSF, NARCOMS, Australian, and Italian) showed that PPMS patients (0.23 variants per individual) on average harbored a significantly higher number of potentially pathogenic HSP‐related mutations compared to RMS (0.14) and controls (0.12; t test, p = 3.8 × 10−4 for PPMS vs controls; p = 9.6 × 10−4 for PPMS vs RMS). Moreover, SPMS patients (0.17), on average, also harbored a higher number of HSP‐related mutations compared to RMS (0.14) and controls (0.12; p = 0.018 for SPMS vs controls, p = 0.048 for SPMS vs RMS). Importantly, no significant enrichment was detected in RMS patients compared to healthy controls (p = 0.4). HSP = hereditary spastic paraplegia; NS = not significant; PPMS = primary progressive multiple sclerosis; RMS = relapsing multiple sclerosis; SPMS = secondary progressive multiple sclerosis.