Hereditary spastic paraplegia type 33 (SPG33)

Evidence-based neurology checklist on hereditary spastic paraplegia type 33 (spg33): Genetics This is caused by mutations in the protrudin ZFYVE27 gene on chromosome 10q The transmission is autosomal dominant It is usually a pure HSP Clinical features

Genetics

  • This is caused by mutations in the protrudin ZFYVE27 gene on chromosome 10q
  • The transmission is autosomal dominant
  • It is usually a pure HSP

Clinical features

References

  1. Mannan AU, Krawen P, Sauter SM, et al. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet 2006; 79:351-357. 

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