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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-12-2016
Symbol SPG73
Location 19q13.33
Name Spastic paraplegia 73
Corresponding gene CPT1C
Main clinical features
  • pure spastic paraplegia, the mean age at onset was 35 years (range 19-48 years), and the disorder was slowly progressive, resulting in gait impairment or loss of ambulation 10 to 15 years later
  • spasticity of the lower limbs, proximal muscle weakness, mild muscle atrophy, hyperreflexia with extensor plantar responses, decreased vibratory sense at the ankles, and mild urinary dysfunction
  • peripheral nerve conduction studies, cognitive function, and brain imaging were normal
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease