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GENATLAS PHENOTYPE
last update : 22-05-2017
Symbol SPG74
Location 1q42.13
Name spastic paraplegia 74, autosomal recessive
Corresponding gene IBA57
Main clinical features
  • neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade
  • symptoms first appeared in the first decade, manifest as gait impairment associated with mild to moderate spasticity, hyperreflexia of the knee, and extensor plantar responses
  • also distal sensory impairment, with loss of ankle reflexes, distal leg atrophy, and pes cavus; funduscopic analysis showed optic atrophy and reduced visual acuity; brain imaging showed atrophy of the optic nerve
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)