Autosomal recessive pure spastic paraplegia

Autosomal recessive pure spastic paraplegia (AR-PSP) is a group of inherited neurological disorders belonging to the hereditary spastic paraplegias (HSPs), characterized by progressive spasticity and weakness of the lower limbs due to degeneration of the corticospinal tract motor neurons. In the 'pure' (uncomplicated) form, the primary clinical features are confined to progressive bilateral lower extremity spasticity, hyperreflexia, extensor plantar responses (Babinski sign), and varying degrees of lower limb weakness and bladder dysfunction. Unlike complicated forms of HSP, pure spastic paraplegia does not typically involve additional neurological features such as cognitive impairment, cerebellar ataxia, peripheral neuropathy, or visual disturbances. Multiple genetic loci have been associated with autosomal recessive pure spastic paraplegia, including SPG5 (CYP7B1), SPG7 (paraplegin), SPG11, SPG15, SPG28, SPG30, SPG46, and others. The age of onset is variable, ranging from early childhood to adulthood, depending on the specific genetic subtype. Disease progression is typically slow but relentless, leading to increasing difficulty with ambulation and, in some cases, eventual need for assistive devices or wheelchair use. There is currently no cure or disease-modifying therapy for autosomal recessive pure spastic paraplegia. Management is symptomatic and supportive, focusing on physical therapy to maintain mobility and prevent contractures, antispasticity medications such as baclofen or tizanidine, and management of urinary symptoms. Botulinum toxin injections may be used for focal spasticity. Orthopedic interventions may be considered in selected cases. Genetic counseling is recommended for affected families to discuss recurrence risks and reproductive options.

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