When comparing the characteristics in ALS patients from our cohort with (n = 9) and without (n = 205) rare deleterious SPG7 variants (Supplementary Table 3), clinical cerebellar dysfunction was more frequent in SGP7 variant carriers (5/9: 56%) compared to non-SPG7 variant carriers (16/205: 8%; P < 0.001, two-sided Fisher’s exact test). This evidence concerns the gene SPG7 and amyotrophic lateral sclerosis.