Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia

J Neurol. 2016 Jun;263(6):1232-3. doi: 10.1007/s00415-016-8103-6. Epub 2016 Mar 30.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adult
  • Diagnosis, Differential
  • Family
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Poly(A)-Binding Protein I / genetics*
  • Skin / pathology
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology
  • Spastic Paraplegia, Hereditary / physiopathology*
  • Spastin

Substances

  • PABPN1 protein, human
  • Poly(A)-Binding Protein I
  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human