Abstract—Hereditary spastik paraplegias (HSP) are a group of neurodegenerative disorders with primary
lesion of the pyramidal tract. The most frequent autosomal dominant form of the disease in Europeans is HSP
associated with mutations in the spastin gene (SPG4). Analysis of the gene SPG4 was carried out in 52 unre
lated families with HSP from Bashkortostan by SSCP and following sequencing. Previously undescribed
frameshift mutations c.322del29 (p.Val108SerfsX18) and c.885del10 (p.Thr295ThrfsX16) were detected in
two unrelated families. Clinical studies have shown that, in both families, the disease corresponds to an
uncomplicated form of hereditary spastic paraplegia, a main feature of which is the lower spastic paraparesis
without any other symptoms.