Autosomal recessive spastic paraplegia type 45 (SPG45) is a neurodegenerative disorder caused by mutations in the NT5C2gene, located on chromosome 10q24.32-q24.33 Genomic coordinates (GRCh38) : 10:103,088,017-103,193,272. The condition results in a complex form of spastic paraplegia, characterized by progressive lower limb spasticity, abnormal gait, and increased reflexes, with onset typically in infancy. Molecular characteristics stem from the NT5C2gene's role in cellular processes, leading to symptoms such as intellectual disability, optic atrophy, and muscle weakness.
NT5C2