hereditary spastic paraplegia 85

A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromos

A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21.

Signs and symptoms

• Saccadic smooth pursuit interruptions
• Lower limb spasticity
• Optic atrophy
• Brisk reflexes
• Babinski sign
• Lower limb muscle weakness
• Dysarthria
• Motor delay
• Spastic paraplegia
• Upper limb spasticity

Also known as: SPG85; spastic paraplegia 85 autosomal recessive