Hereditary spastic paraplegia (clinical cases)

In this paper, we present three clinical cases of patients whom we observed with genetically proven familial cases of hereditary spastic paraplegia caused by mutations in SPG4 gene. We give detailed clinical descriptions, pedigrees and discuss these patients comparing them with data published in Russian and international journals. The considered clinical cases attract attention with manifestations that are not often encountered in practice (cognitive deficiency, limbs malformations), and demonstrate additional possibilities for symptomatic relief using botulinum toxin therapy to alleviate muscle spasticity in the legs. All patients registered a positive effect.