A Rare Case of Unilateral Lower Limb Spasticity: Two Rare Mutations!

The SPG11 gene was first analyzed, revealing homozygous or compound heterozygous mutations in 30/97 (30.9%) of pro bands, the largest SPG11 series reported to date, and by far the most common cause of complex spastic paraplegia Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by path physiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. HSP can be transmitted as an Autosomal Dominant (AD), Autosomal Recessive (AR), X-linked (XL), or mitochondrial manner. Here we describe a 15-yr-oldboy with abnormal posturing of right lower limb (dystonia and spasticity) during walking, who MRI is showed thinned out corpus callosum. Patients younger brother also had weakness in the lower limbs and Similar MRI findings. Mutation analysis revealed two rare variations in the SPG 11 gene not reported in medical literature till date.