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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-10-2013
Symbol SPG44
Location 1q42.13
Name spastic paraplegia 44
Corresponding gene GJC2
Main clinical features
  • late onset (first and second decades), cognitive impairment, slowly progressive, spastic paraplegia, dysarthria, and upper extremity involvement
  • lower limb spasticity, spastic gait, extensor plantar responses, hyperreflexia, and pes cavus
  • MRI and MR spectroscopy imaging consistent with a hypomyelinating leukoencephalopathy
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease