Hereditary spastic paraplegia type 63 (SPG63)

Evidence-based neurology checklist on hereditary spastic paraplegia type 63 (spg63): Genetics This is caused by mutations in the AMPD2 gene on chromosome 1p The transmission is autosomal recessive The onset age is 14 months Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the AMPD2 gene on chromosome 1p
  • The transmission is autosomal recessive
  • The onset age is 14 months

Clinical features

Magnetic resonance imaging (MRI) brain: features

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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