The variant of the SPG11 gene, which is known to cause hereditary spastic paraplegia, was so rare that it had not been recorded in the “Genome Medical Alliance Japan, Whole Genome Aggregation (GEM-J WGA) panel” by Genome Medical alliance Japan Project (GEM-J) (https://togovar.biosciencedbc.jp/doc/datasets/gem_j_wga), and Tohoku Medical Megabank Organization (ToMMo 4.7KJPN) (https://jmorp.megabank.tohoku.ac.jp/202008/). Here, SPG11 is linked to hereditary spastic paraplegia.