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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-01-2019
Symbol SPG57
Location 3q12.2
Name spastic paraplegia 57
Corresponding gene TFG
Main clinical features
  • early onset of complicated spastic paraplegia, vision problems due to optic atrophy , also wasting of the hand and leg muscles due to an axonal demyelinating sensorimotor neuropathy; in adulthood patients were wheelchair-bound
  • no intellectual disability
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease