hereditary spastic paraplegia 48

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.

Signs and symptoms

• Thin corpus callosum
• Spastic paraplegia
• Mild intellectual disability
• Dysmetria
• Urinary incontinence
• Spastic gait
• Periventricular white matter hyperintensities
• Ataxia
• Lower limb spasticity
• Lower limb muscle weakness

Also known as: SPG48; autosomal recessive spastic paraplegia 48; autosomal recessive spastic paraplegia type 48