Mother and son of a Spanish family with spastic paraplegia type 7 carried a complex rearrangement (the mother was homozygous and the son heterozygous for the rearrangement), which consisted of a deletion of SPG7 exons 11–13, with the eventual 5′ breakpoint in an AluSq element, the 3′ breakpoint adjacent to a core chi-like sequence (gctgg), and insertion of a 8-bp fragment from an intermediate AluSx element at the breakpoint junction. This evidence concerns the gene SPG7 and hereditary spastic paraplegia 7.