Also in one 49-year-old woman (patient 2930 from pedigree I) two variants were found - like two of her relatives with HSP (sister and daughter - patients 2109 and 2931 respectively), she had a splicing mutation at the border of intron 8/exon 9 of the SPAST gene, but additionally a change in exon 5. Here, SPAST is linked to hereditary spastic paraplegia.