Abstract
The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. This report presents the a case of a 49-year-old female with spastic paraparesis, initially suspected to be primary progressive multiple sclerosis (PPMS). Genetic testing later identified two mutations in the CYP7B1 gene that was associated with the SPG5 form of HSP. This case highlights the challenge of distinguishing HSP from other chronic spinal cord diseases and emphasizes the role of genetic analysis in rare cases of spastic paraplegia.
Hereditary spastic paraplegia
Spastic paraparesis
Primary progressive multiple sclerosis
CYP7B1 gene mutation
Genetic testing
