Allelic variability in D21S11, but not in APP or APOE, is associated with cognitive decline in Down syndrome

Research output: Contribution to journalArticlepeer-review


  • Matthew J. Farrer
  • Lissa Crayton
  • Gail E. Davies
  • John Powell
  • Anthony J. Holland
  • Anna M. Kessling

Colleges, School and Institutes

External organisations

  • St Mark's NHS Trust
  • King's College London
  • University of Cambridge


Genetic variation in the APOE gene and variation in chromosome 21 genotypes, including the APP locus, may influence age-associated cognitive decline in adults with Down syndrome. Molecular genetic and longitudinal neuropsychological analysis was performed for 41 unrelated Caucasian individuals (mean age 48.1 ± 1.1 years (s.e.m.)) with free trisomy 21. Allele frequencies and genotype distributions were compared among subgroups with or without evidence of cognitive decline. Genetic variability at APOE and APP was not significantly associated with evidence of cognitive decline. However, aged individuals with Down syndrome, without evidence of cognitive decline, demonstrated unusual allelic variability at D21S11. These findings are discussed in the context of current hypotheses of Alzheimer-type dementia in Down syndrome and in the general population.


Original languageEnglish
Pages (from-to)1645-1649
Number of pages5
Issue number7
Publication statusPublished - 1 Jan 1997


  • Alzheimer disease, Apolipoprotein E, Chromosome 21, Down syndrome, Genetics, β-amyloid

ASJC Scopus subject areas