SPG45 presents with progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes, and extensor plantar responses, typically starting in infancy or early childhood. It is a complicated form of hereditary spastic paraplegia, often involving intellectual disability, and may include complications such as foot deformities (like clubfoot), muscle wasting (amyotrophy), contractures, and optic atrophy.
NT5C2