Here, we would compare and contrast the clinical features of 6such patients who presented with progressive lower limb spasticity and 3 out of them were genetically proven to be HSP. The other 2 patients had closely fitting diagnosis that would have to be thought of in case of such presentations. The three patients who were genetically proven to be HSP presented with gait unsteadiness/ difficulty in walking for variable durations in each case. They also complained of both proximal and distal muscle weakness for similar durations. Two were positive for SPG 7 mutations and one for SPG 11. The other two patients that had similar presentations along with some atypical features, though not uncommon in HSP, one of them was positive for MTHFR deficiency, who was treated successfully with proper vitamin supplementations. The other patient too, who had an exact similar presentation was genetically diagnosed as Mucolipidosis II alpha/beta. The last patient, who presented with asymmetric onset lower limb weakness and stiffness was positive for LYST gene mutation and reported as a variant of Chediak higashi syndrome, though extensive literature search showed that LYST mutation could also be a presentation in HSP.

6 patients with more or less similar clinical presentations, showed a wide variety in their genetic diagnosis. Clinical and neuroimaging measures alone typically cannot discriminate between different genetic forms of simple HSP. This represents the phenotypic variety within a particular genetic type of HSP as well as the clinical similarity between several forms of spastic paraparesis.