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Autosomal dominant spastic paraplegia type 4

Disease definition

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. SPG4 is caused by mutations in the SPAST gene (2p24-p21), encoding spastin.

ORPHA:100985

  • Synonym(s):
    • SPG4
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: G11.4
  • OMIM: 182601
  • UMLS: C1866855
  • MeSH: C536865
  • GARD: 4925
  • MedDRA: -

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