Main clinical features:
• Progressive spastic paraplegia
• Lower-limb spasticity and weakness
• Gait disturbances
• Hyperreflexia
• Possible urinary urgency or bladder dysfunction
Prevalence:UBAP1-associated SPG80 is considered ultra-rare, with approximately 50–60 families reported worldwide.
Inheritance:The condition is autosomal dominant, most often caused by truncating variants that act via a dominant negative mechanism.
UBAP1