Hereditary spastic paraplegia type 67 (SPG67)

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

Hereditary spastic paraplegia type 67 (SPG67). This is caused by mutations in the PGAP1 gene on chromosome 2q. Fully referenced neurology checklist.

Genetics

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

Clinical features

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI) brain: features

Locked: subscribe to see this section.

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. 

Related checklists

Loading...