RCC1 and infantile-onset ascending hereditary spastic paralysis: Of these, E724GfsX26 was described with variant G437VfsX9 of RCC1 domain in a compound heterozygous genotype in two Chinese siblings with IAHSP [18], whereas the homozygous nonsense mutation Q715X was reported in two sibs claimed to be the first IAHSP cases from northwestern Europe [12].