Some individuals with apparently dominant inheritance of SPG7 variants causing HSP or Amyotrophic lateral sclerosis have been described previously34,35, including individuals carrying the SPG7 p.G349S and p.A510V variants identified in this cohort, however this association remains controversial since both variants are relatively frequent in population databases (gnomAD frequencies 8.23E−04 and 2.90E−03 respectively). Here, SPG7 is linked to amyotrophic lateral sclerosis.