hereditary spastic paraplegia 79B

info · Genetic

A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.

Signs and symptoms

Gaze-evoked nystagmus
Ataxia
Intention tremor
Reduced visual acuity
Hyperreflexia
Visual loss
Cerebral atrophy
Pes cavus
Impaired vibration sensation at ankles
Impaired vibratory sensation

Also known as: SPG79B; autosomal recessive spastic paraplegia 79B; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; spastic paraplegia 79 autosomal recessive