Hereditary spastic paraplegia type 43 (SPG43)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia type 43 (SPG43). This is caused by mutations in the C19orf12 gene on chromosome 19q. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain

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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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