Phenotypically, pathogenic variants in SPG11 may also present as autosomal recessive juvenile amyotrophic lateral sclerosis (ALS5) or as a pure motor neuropathy (Orlacchio et al., 2010; Denora et al., 2016), indicating that motor neuropathy is a common feature of different phenotypic presentations of pathogenic SPG11 variants. Here, SPG11 is linked to amyotrophic lateral sclerosis type 5.