No significant association between a PS-1 intronic polymorphism and dementia in Down's syndrome

Shoumitro Deb, John Braganza, Michael Owen, Patrick Kehoe, Hywell Williams, Nadine Norton

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7 Scopus citations


Presenilin-1 (PS-1 ) intronic polymorphism is claimed to be a risk factor for Alzheimer's disease (AD). The effect of PS-1 polymorphism on AD neuropathology of adults with Down's syndrome (DS) was studied by genotyping 26 demented and 36 non-demented DS adults and comparing these findings with those of two non-mentally retarded control groups (young and elderly). A total of 30.8% of the demented and 38.9% of the non-demented DS adults were homozygousforallele 1. Frequencies for the 1 -1 genotype in young and elderly controls were respectively 36.9% and 27.7%. No statistically significant differences were found in either allelic or genotypic distributions of the PS-1 polymorphism between demented and non-demented DS adults and the control groups.

Original languageEnglish (US)
Pages (from-to)365-368
Number of pages4
JournalAlzheimer's Reports
Issue number6
StatePublished - Dec 1 1998



  • Alzheimer's disease
  • Down's syndrome
  • Polymorphism
  • Presenilin-1
  • Risk factors

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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