For ATXN2, our findings are similar to those previously reported in other cohorts (e.g. British and Dutch), where Sproviero et al. 42 confirmed increased amyotrophic lateral sclerosis risk for individuals carrying 29–33 repeats and an exponential risk increase of amyotrophic lateral sclerosis with repeat size. Here, ATXN2 is linked to amyotrophic lateral sclerosis.