Genetic subtypes of Hereditary Spastic Paraplegia

Abstract

Hereditary Spastic Paraplegias (HSPs) are a type of genetic disorders where a spastic gait is either the only or a major feature seen in affected patients. Symptoms involved include lower limb weakness and a high rate of muscle spasming. These diseases are clinically grouped into pure (uncomplicated) and complicated. Patients suffer from sensory loss in the lower limb in both types, but those with complicated HSP will experience neurological defects such as cerebellar dysfunction (tremors, ataxia, and nystagmus), ophthalmic problems such as pigmentary retinopathy and optic atrophy amongst others. HSP is categorized according to mode of inheritance (autosomal dominant, autosomal recessive, and X-linked recessive), clinical phenotype, or any neuro-pathophysiology. The vast majority of pure HSP are autosomal dominant cases, while complicated HSP cases are primarily autosomal recessive. Pathophysiology involves abnormalities in membrane trafficking and axonal transport. Treatment currently consists of stretching workouts, pharmacotherapy, and physiotherapy.