Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene

Hum Mutat. 1998;11(3):216-21. doi: 10.1002/(SICI)1098-1004(1998)11:3<216::AID-HUMU6>3.0.CO;2-F.


Mutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy-documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A426P, and E120D), two were previously reported mutations in new families, and three mutations were confirmed in previously published families. Two of these new mutations are found within predicted transmembrane domains (TMDs 4, 7, and 8). The A426P mutation is the most C-terminal PS-1 mutation identified to date.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / ethnology
  • Alzheimer Disease / genetics*
  • Chromosomes, Human, Pair 14 / genetics*
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant / genetics
  • Genetic Testing
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Point Mutation / genetics*
  • Presenilin-1


  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1