Pathogenic variants in any of these genes can lead to severe inherited neurological disorders: pathogenic variants in VPS13A are associated with ChAc, pathogenic variants in VPS13B/COH1 are associated with Cohen syndrome (15, 16), pathogenic variants in VPS13C are associated with early-onset autosomal recessive Parkinson’s disease (17, 18), and pathogenic variants in VPS13D are associated with spastic ataxia, etc. (19–21). This evidence concerns the gene VPS13B and spastic ataxia.