hereditary spastic paraplegia 79A

A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13.

Signs and symptoms

• Gait ataxia
• Lower limb hyperreflexia
• Impaired vibratory sensation
• Lower limb spasticity
• Intention tremor
• Optic atrophy
• Peripheral axonal neuropathy
• Saccadic smooth pursuit interruptions
• Dysphagia
• Dysarthria

Also known as: SPG79A; autosomal dominant spastic paraplegia 79A