Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

J Neurol. 2014 Sep;261(9):1825-7. doi: 10.1007/s00415-014-7443-3. Epub 2014 Jul 25.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Corpus Callosum / pathology*
  • DNA Mutational Analysis
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Proteins / genetics*
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology*

Substances

  • Proteins
  • SPG11 protein, human