hereditary spastic paraplegia 81

A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p2

A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.

Signs and symptoms

• Delayed speech and language development
• Mild intellectual disability
• Babinski sign
• Periventricular white matter hyperintensities
• Lower limb spasticity
• Motor delay
• Hyperreflexia
• Ankle clonus
• Microcephaly
• Inability to walk

Also known as: SPG81; autosomal recessive complex SPG due to Kennedy pathway dysfunction; autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; spastic paraplegia 81 autosomal recessive