hereditary spastic paraplegia 82

A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation i

A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.

Signs and symptoms

• Cerebral atrophy
• Delayed ability to walk
• Developmental regression
• Babinski sign
• Nystagmus
• Reduced visual acuity
• Spasticity
• Intellectual disability
• Hyperreflexia
• Bilateral tonic-clonic seizure with generalized onset

Also known as: SPG82; spastic paraplegia 82 autosomal recessive