General description

Familial/Hereditary spastic paraplegia (FSP/HSP) is a genetic disorder characterized by slowly progressive spasticity and muscular weakness affecting the bilateral lower extremities. FSP/HSP arises from mutations in numerous genes, with spastin mutations representing the most prevalent genetic etiology.

FSP/HSP can be categorized into two distinct types: the pure form, in which only the cardinal manifestations of spastic paraparesis and vesicourinary disturbances are present, and the complex form, which is accompanied by additional symptomatology such as cerebellar ataxia, sensory deficits, visual disturbance, auditory disturbance, scoliosis, and hip dislocation in addition to the presentation of pure form.