Hereditary spastic paraplegia type 66 (SPG66)

Evidence-based neurology checklist on hereditary spastic paraplegia type 66 (spg66): Genetics This is caused by mutations in the ARSI gene on chromosome 5q The transmission is autosomal recessive This is in one subject The onset age is 18 months Clinical features Magnetic resonance imaging (MRI)…

Genetics

  • This is caused by mutations in the ARSI gene on chromosome 5q
  • The transmission is autosomal recessive
  • This is in one subject
  • The onset age is 18 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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