hereditary spastic paraplegia 78

info · Genetic

A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.

Signs and symptoms

Ataxia
Nystagmus
Mental deterioration
Hyperreflexia
Dysarthria
Falls
Peripheral axonal neuropathy
Cerebellar atrophy
Babinski sign
Cerebral cortical atrophy

Also known as: SPG78; spastic paraplegia 78 autosomal recessive