Variants in the SPG11 gene are most commonly associated with autosomal recessive spastic paraplegia, although homozygous variants have been recently identified in juvenile ALS (Orlacchio et al., 2010; Daoud et al., 2012), and heterozygous missense variants in sALS (Kenna et al., 2013; Couthouis et al., 2014). The gene discussed is SPG11; the disease is amyotrophic lateral sclerosis.