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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-06-2016
Symbol SPG76
Location 11q13.1
Name spastic paraplegia 76
Corresponding gene CAPN1
Main clinical features
  • neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties
  • associated with upper limb involvement and additional features such as foot deformities and dysarthria, additional neurological symptoms in addition to the typical spasticity of the lower limbs, such as upper-extremity hyperreflexia
  • Genetic determination autosomal recessive
    Prevalence 2.2 p100 of the affected individuals
    Function/system disorder neurology
    Type disease