Hereditary spastic paraplegia type 53 (SPG53)

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

Hereditary spastic paraplegia type 53 (SPG53). This is caused by mutations in the VPS37A gene on chromosome 8p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the VPS37A gene on chromosome 8p
  • The transmission is autosomal recessive
  • The onset is early

Clinical features

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References

  1. Zivony-Elboum Y, Westbroek W, Kfir N, et al. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J Med Genet 2012; 49:462-472. 

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