A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia

J Neurol. 2007 Jul;254(7):972-4. doi: 10.1007/s00415-006-0446-y. Epub 2007 Mar 22.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cysteine / genetics
  • DNA Mutational Analysis / methods
  • Family Health
  • Female
  • GTP Phosphohydrolases / genetics*
  • GTP-Binding Proteins
  • Genetic Linkage
  • Humans
  • Japan
  • Membrane Proteins
  • Polymorphism, Genetic / genetics*
  • Spastic Paraplegia, Hereditary / genetics*
  • Tyrosine / genetics

Substances

  • Membrane Proteins
  • Tyrosine
  • ATL1 protein, human
  • GTP Phosphohydrolases
  • GTP-Binding Proteins
  • Cysteine