The variant identified in SPG7 p.(Ala510Val) (MIM 602783) has previously been described in individuals with spastic paraplegia 7 (MIM 607259), and another SPG7 variant, c.1232A>C, p.(Asp411Ala), segregated with the disease in a family with an autosomal dominant optic neuropathy [51]. This evidence concerns the gene SPG7 and Autosomal recessive spastic paraplegia type 7.