Autosomal dominant spastic paraplegia type 80

Autosomal dominant spastic paraplegia type 80 (SPG80) is a rare hereditary spastic paraplegia caused by heterozygous mutations in the UBAP1 gene (ubiquitin-associated protein 1). Hereditary spastic paraplegias are a group of neurodegenerative disorders characterized by progressive weakness and spasticity (stiffness) of the lower limbs due to degeneration of the corticospinal tract motor neurons. SPG80 primarily affects the nervous system, specifically the upper motor neurons that control voluntary movement in the legs. Patients with SPG80 typically present with progressive spastic gait, lower limb hyperreflexia, and extensor plantar responses (Babinski sign). The disease generally manifests in childhood, though age of onset can vary. SPG80 is classified as a "pure" or "uncomplicated" form of hereditary spastic paraplegia, meaning that spasticity and weakness of the lower extremities are the predominant features, although some patients may develop additional neurological signs over time. Brain and spinal cord MRI may show thinning of the corpus callosum or spinal cord atrophy in some cases. There is currently no cure or disease-modifying treatment for SPG80. Management is symptomatic and supportive, focusing on physical therapy to maintain mobility and reduce spasticity, antispasticity medications such as baclofen or tizanidine, and orthopedic interventions as needed. Occupational therapy and assistive devices may be recommended as the disease progresses. Genetic counseling is important for affected families given the autosomal dominant inheritance pattern, meaning each child of an affected individual has a 50% chance of inheriting the condition.

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