Hereditary spastic paraplegia type 59 (SPG59)

Evidence-based neurology checklist on hereditary spastic paraplegia type 59 (spg59): Genetics This is caused by mutations in the USP8 gene on chromosome 15q The transmission is autosomal recessive The mean onset age is 20 months Clinical features Magnetic resonance imaging (MRI) brain

Genetics

  • This is caused by mutations in the USP8 gene on chromosome 15q
  • The transmission is autosomal recessive
  • The mean onset age is 20 months

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014; 343:506-511. 

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