Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene

Eur J Neurol. 2014;21(1):e2. doi: 10.1111/ene.12284. Epub 2013 Dec 10.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Humans
  • Membrane Proteins / genetics*
  • Middle Aged
  • Pedigree
  • Point Mutation
  • Spastic Paraplegia, Hereditary / genetics*
  • Young Adult

Substances

  • Membrane Proteins
  • NIPA1 protein, human