Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation

Acta Neuropathol Commun. 2019 Feb 12;7(1):19. doi: 10.1186/s40478-019-0672-z.
No abstract available

Keywords: Alzheimer’s disease; Cotton wool plaques; Disease duration; Presenilin 1 mutation; Spastic paraparesis.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alzheimer Disease / complications
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Brain / pathology*
  • Cognitive Dysfunction / complications
  • Cognitive Dysfunction / genetics*
  • Cognitive Dysfunction / pathology
  • Disease Progression
  • Female
  • Humans
  • Middle Aged
  • Mutation
  • Paraparesis, Spastic / complications
  • Paraparesis, Spastic / genetics*
  • Paraparesis, Spastic / pathology
  • Plaque, Amyloid / complications
  • Plaque, Amyloid / pathology
  • Presenilin-1 / genetics*

Substances

  • PSEN1 protein, human
  • Presenilin-1