SPG7 and Autosomal recessive spastic paraplegia type 7: Furthermore, two affected males, CZS_18 and CZS_25, carried a pathogenic variant (rs61755320; MAF gnomAD: 0.0029) that promotes an Alanine to Valine modification in the SPG7 gene causing spastic paraplegia 7 (OMIM #607259).