hereditary spastic paraplegia 11

A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.

Signs and symptoms

• Babinski sign
• Lower limb hyperreflexia
• Hypoplasia of the corpus callosum
• Intellectual disability
• Dysarthria
• Gaze-evoked nystagmus
• Impaired vibration sensation in the lower limbs
• Agenesis of corpus callosum
• Urinary incontinence
• Ataxia

Also known as: HSP-TCC; Nakamura-Osame syndrome; SPG11; autosomal recessive spastic paraplegia 11; autosomal recessive spastic paraplegia complicated with thin corpus callosum