Hereditary spastic paraplegia type 72 (SPG72)

Evidence-based neurology checklist on hereditary spastic paraplegia type 72 (spg72): 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

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

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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