Hereditary Spastic Paraplegia Type 11: A Comprehensive Case Report

Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetically determined diseases, characterized by progressive spastic paraparesis of the lower limbs, associated with degeneration of the corticospinal tract and the posterior column of the spinal cord. Currently known to be about 70 genes are involved in HSP, though new potentially pathogenic variants are being reported regularly. Almost all patterns of inheritance like autosomal dominant, autosomal recessive, X-linked, and mitochondrial have been found in families of HSP patients. However, autosomal recessive form, hereditary spastic paraplegia type 11 is the most common one. We presented a case of an 18-year-old woman, with no significant medical history and without known consanguinity, presented with a 2-year history of sub-acute onset and slowly progressing weakness and stiffness in both lower limbs and difficulty in walking and finally diagnosed as a Hereditary Spastic Paraplegia 11. Genetic analysis by whole-exome sequencing on the Illumina Novaseq 6000 NGS Platform was done and indicated homozygous variations in exon 4 of gene SPG11(chr15:g.44657230_44657231delAT): the c733_734del p (Met245ValfsTer2) variant on the allele. Here, we describe the clinical, radiological, and genetic presentation of Spastic paraplegia 11 (SPG11) through a report of a case and compare it with previously reported SPG11 cases in the literature.