Is the apolipoprotein E ε4 genotype a risk factor for Alzheimer’s disease in adults with Down syndrome?


  • In patients with Down syndrome (DS) carrying the apolipoprotein E (APOE) ε4 allelle, clinical symptoms of Alzheimer’s disease (AD) and changes in AD-related biomarkers presented earlier when compared to non-carriers.

Why this matters

  • Individuals with DS are at extremely high risk of developing AD due to chromosome 21 trisomy, which carries the amyloid precursor protein gene.

  • These findings highlight the importance of APOE genotyping in future clinical trials of DS.