Although this study considered a small number of SPAST variants, and family segregation or functional analysis was performed in a few numbers of patients, this study highlights the relevance of SPAST in diagnosing HSP, and the high frequency of splicing mutations in the SPAST gene both in our cohort of patients and in patients from literature data concomitantly reviewed in the present study. This evidence concerns the gene SPAST and hereditary spastic paraplegia.