A case report of a woman with young onset cognitive impairment associated with hereditary spastic paraplegia due to a mutation in the SPAST gene

J Neurol Sci. 2016 Aug 15:367:131-2. doi: 10.1016/j.jns.2016.05.057. Epub 2016 May 31.
No abstract available

Keywords: Cognitive impairment; Dementia; Hereditary spastic paraplegia; SPAST; SPG4; Spastin.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adult
  • Brain / diagnostic imaging
  • Cognitive Dysfunction / complications*
  • Cognitive Dysfunction / diagnostic imaging
  • Cognitive Dysfunction / genetics*
  • Cognitive Dysfunction / physiopathology
  • Female
  • Humans
  • Mutation*
  • Pedigree
  • Spastic Paraplegia, Hereditary / complications*
  • Spastic Paraplegia, Hereditary / diagnostic imaging
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology
  • Spastin

Substances

  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human