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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-06-2012
Symbol SPOAN
Location 11q13
Name spastic paraplegia, congenital optic atrophy, neuropathy
Corresponding gene KLC2
Main clinical features
  • subnormal vision secondary to apparently nonprogressive congenital optic atrophy
  • onset of progressive spastic paraplegia in infancy, onset of progressive motor and sensory axonal neuropathy in late childhood/early adolescence
  • dysarthria starting in the third decade of life, exacerbated acoustic startle response
  • affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities.
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease