Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism

J Neurol. 2008 Apr;255(4):604-6. doi: 10.1007/s00415-008-0764-3. Epub 2008 Mar 25.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Aged
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / physiopathology
  • Alzheimer Disease / psychology
  • Amino Acid Substitution / genetics
  • Brain / diagnostic imaging
  • Brain / pathology
  • Brain / physiopathology
  • DNA Mutational Analysis
  • Dementia / genetics
  • Dementia / physiopathology
  • Dementia / psychology
  • Disease Progression
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Male
  • Mutation / genetics*
  • Pedigree
  • Polymorphism, Genetic / genetics*
  • Presenilin-1 / chemistry
  • Presenilin-1 / genetics*
  • Presenilin-2 / chemistry
  • Presenilin-2 / genetics*
  • Tomography, Emission-Computed, Single-Photon

Substances

  • Genetic Markers
  • PSEN2 protein, human
  • Presenilin-1
  • Presenilin-2