De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling

Neurol Sci. 2015 Jun;36(6):1063-4. doi: 10.1007/s10072-015-2097-1. Epub 2015 Jan 31.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Child, Preschool
  • Diagnosis, Differential
  • GTP-Binding Proteins / genetics*
  • Genetic Counseling
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology*

Substances

  • Membrane Proteins
  • ATL1 protein, human
  • GTP-Binding Proteins

Supplementary concepts

  • Spastic paraplegia 3, autosomal dominant