Hereditary spastic paraplegia type 67 (SPG67)

Evidence-based neurology checklist on hereditary spastic paraplegia type 67 (spg67): Genetics This is caused by mutations in the PGAP1 gene on chromosome 2q The transmission is autosomal recessive Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the PGAP1 gene on chromosome 2q
  • The transmission is autosomal recessive

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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