Hereditary spastic paraplegia type 53 (SPG53)

Evidence-based neurology checklist on hereditary spastic paraplegia type 53 (spg53): Genetics This is caused by mutations in the VPS37A gene on chromosome 8p The transmission is autosomal recessive The onset is early Clinical features

Genetics

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

Clinical features

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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