Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease

Neuroreport. 1996 Feb 29;7(3):801-5. doi: 10.1097/00001756-199602290-00029.


The presenilin 1 gene has recently been identified as the locus on chromosome 14 which is responsible for a large proportion of early onset, autosomal dominantly inherited Alzheimer's disease (AD). We have elucidated the intron/exon structure of the gene and designed intronic primers to enable direct sequencing of the entire coding region (10 exons) of the presenilin gene in a large number of families. This strategy has enabled us to find a further two novel mutations in the gene. We discuss the distribution of mutations and the proportions of autosomal dominant AD with a mean age of onset below 60 years caused by mutations in this gene.

Publication types

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

MeSH terms

  • Alzheimer Disease / genetics*
  • Alzheimer Disease / metabolism
  • Base Sequence
  • Cluster Analysis
  • DNA Primers
  • Exons / physiology
  • Genetic Linkage
  • Genome
  • Humans
  • Ireland
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Molecular Sequence Data
  • Mutation
  • Open Reading Frames
  • Presenilin-1
  • United Kingdom


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