ALS2 and Spastic paraplegia: ALS2 mutations were initially discovered in F1 index case and the F2 case submitted to a genome analysis for spastic paraplegia undertaken by next generation sequencing (NGS) with the use of the TruSight One Sequencing Panel (https://www.illumina.com), leading to identification of two compound heterozygous genotypes, that clearly underneath disease, of ALS2 mutations Q982SfsX19 and R704X in F1 and R640X and G49R in F2.