Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques

Neurology. 2009 Aug 11;73(6):480-2. doi: 10.1212/WNL.0b013e3181b163ba.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / genetics*
  • Alzheimer Disease / metabolism
  • Alzheimer Disease / pathology*
  • Amino Acid Substitution / genetics*
  • Amyloid beta-Peptides / genetics
  • Arginine / genetics
  • Female
  • Genetic Linkage
  • Glycine / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • Plaque, Amyloid / genetics*
  • Plaque, Amyloid / pathology
  • Presenilin-1 / genetics*

Substances

  • Amyloid beta-Peptides
  • Presenilin-1
  • Arginine
  • Glycine