Hereditary spastic paraplegia type 48 (SPG48)

Evidence-based neurology checklist on hereditary spastic paraplegia type 48 (spg48): Genetics This is caused by mutations in the APZ51 gene on chromosome 7p The transmission is autosomal recessive Clinical features Magnetic resonance imaging (MRI) brain: features Motor evoked potentials (MEPs)

Genetics

  • This is caused by mutations in the APZ51 gene on chromosome 7p
  • The transmission is autosomal recessive

Clinical features

Magnetic resonance imaging (MRI) brain: features

Motor evoked potentials (MEPs)

References

  1. Hirst J, Madeo M, Smets K, et al. Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). Neurol Genet 2016; 2:e98.  
  2. Słabicki M, Theis M, Krastev DB, et al. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol 2010; 8:e1000408.
  3. Pensato V, Castellotti B, Gellera C, et al. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. Brain 2014; 137:1907-1920. 

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