First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia

Eur J Neurol. 2013 Jan;20(1):e22-3. doi: 10.1111/ene.12000.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Brain / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology
  • Spastin

Substances

  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human