Hereditary spastic paraplegia type 43 (SPG43)

Evidence-based neurology checklist on hereditary spastic paraplegia type 43 (spg43): Genetics This is caused by mutations in the C19orf12 gene on chromosome 19q The transmission is autosomal recessive The onset is in childhood The mutation also causes neurodegeneration with brain iron accumulation…

Genetics

  • This is caused by mutations in the C19orf12 gene on chromosome 19q
  • The transmission is autosomal recessive
  • The onset is in childhood
  • The mutation also causes neurodegeneration with brain iron accumulation 4 (NBIA4)

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Meilleur KG, Traoré M, Sangaré M, et al. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics 2010; 11:313-318.
  2. Landouré G, Zhu PP, Lourenço CM, et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat 2013; 34:1357-1360. 

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