Autosomal dominant spastic paraplegia type 12 (Q100883)

Autosomal dominant spastic paraplegia caused by non-coding CAG repeat expansion in the PPP2R2B gene coding for protein phosphatase 2. It is characterized by childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.