Hereditary spastic paraplegia type 57 (SPG57)

Evidence-based neurology checklist on hereditary spastic paraplegia type 57 (spg57): Genetics This is caused by mutations in the TFG gene on chromosome 3q The transmission is autosomal recessive Clinical features

Genetics

  • This is caused by mutations in the TFG gene on chromosome 3q
  • The transmission is autosomal recessive

Clinical features

References

  1. Beetz C, Johnson A, Schuh AL, et al. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A 2013; 110:5091-5096. 
  2. Elsayed LE, Mohammed IN, Hamed AA, et al. Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. Eur J Hum Genet 2016; 25:100-110. 

Related checklists

Loading...