REEPing the benefits of an animal model of hereditary spastic paraplegia

J Clin Invest. 2013 Oct;123(10):4134-6. doi: 10.1172/JCI72324. Epub 2013 Sep 24.


The hereditary spastic paraplegias (HSPs) are characterized by spasticity of the leg muscles due to axonal degeneration of corticospinal neurons. Beetz et al. report that the core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associated gene Reep1. REEP1 is shown to regulate ER structure in motor cortex neurons. The Reep1 knockout mouse should be a very useful model in which to study the mechanisms of progressive axon loss in HSPs and other disorders.

Publication types

  • Research Support, N.I.H., Extramural
  • Comment

MeSH terms

  • Animals
  • Endoplasmic Reticulum / metabolism*
  • Humans
  • Membrane Transport Proteins / genetics*
  • Motor Neurons / metabolism*
  • Spastic Paraplegia, Hereditary / genetics*


  • Membrane Transport Proteins
  • REEP1 protein, human