Hereditary spastic paraplegia type 13 (SPG13)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia type 13 (SPG13). This is caused by mutations in the HSPD1 gene on chromosome 2q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the HSPD1 gene on chromosome 2q
  • The transmission is autosomal dominant

Clinical features

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References

  1. Fontaine B, Davoine CS, Dürr A, et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 2000; 66:702-707.
  2. Hansen JJ, Dürr A, Cournu-Rebeix I, Georgopoulos C, et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002; 70:1328-1332. 

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