Homozygous or compound heterozygous mutations in the F-box only protein 7 (FBXO7) gene located on chromosome 22q12.3 are associated with Parkinsonian-pyramidal syndrome (PPS) and AR EOPD (PARK15, OMIM 260300) [160,161]. This evidence concerns the gene FBXO7 and popliteal pterygium syndrome.