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last update : 15-05-2019
Symbol SPG80
Location 9p13.3
Name spastic paraplegia 80
Corresponding gene UBAP1
Main clinical features
  • juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade
  • any patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease