hereditary spastic paraplegia 56

A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.

Signs and symptoms

• Babinski sign
• Lower limb hyperreflexia
• Peripheral axonal neuropathy
• Delayed ability to walk
• Upper limb hyperreflexia
• Motor delay
• Spastic paraplegia
• Basal ganglia calcification
• Hypoplasia of the corpus callosum
• Abnormal cerebral white matter morphology

Also known as: SPG56; autosomal recessive spastic paraplegia 56; autosomal recessive spastic paraplegia type 56