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last update : 08-10-2013
Symbol SPG13
Location 2q33.1
HGNC id 11228
Name spastic paraplegia 13
Corresponding gene HSPD1
Main clinical features
  • pure, progressive spasticity and weakness of the lower limbs, with increased reflexes in the upper limbs
  • adolescent and adult onset
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name heat shock 60 kD protein 1 (chaperonin 10)
    Remark(s) mutation leading to reduced chaperonin activity that cause reduced folding and premature degradation of a subset of proteins, resulting among other things in decreased activities of certain enzymes