Hereditary spastic paraplegia type 72 (SPG72)

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

Hereditary spastic paraplegia type 72 (SPG72). This is caused by mutations in the REEPs gene on chromosome 5q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the REEPs gene on chromosome 5q
  • The transmission is autosomal recessive or dominant
  • It is childhood onset
  • It usually presents as pure HSP

Clinical features

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References

  1. Esteves T, Durr A, Mundwiller E, et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am J Hum Genet 2014; 94:268-277.

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