Conditions / Genetic
hereditary spastic paraplegia 80
info · Genetic
A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3.
Signs and symptoms
- Lower limb hyperreflexia
- Babinski sign
- Lower limb spasticity
- Upper limb hyperreflexia
- Gait disturbance
- Spastic paraplegia
- Urinary urgency
- Gaze-evoked nystagmus
- Limb ataxia
- Dysmetric saccades
Also known as: SPG80; spastic paraplegia 80 autosomal dominant