Abstract
Background/Aims: Most people with Down syndrome (DS) develop Alzheimer’s disease (AD). The extended tau haplotype has been linked to AD. In this study, we examined the haplotype’s effect on the age of onset of AD in DS. Methods: People with DS were assessed for dementia. Genotyping was performed for the extended tau haplotype, APOE anda polymorphism in APP, attt<sub>5–8</sub>. Results: Haplotype frequencies vary between those developing AD before 45 and those developing dementia after this age (p = 0.03). H1/H2 individuals are more likely to develop dementia before 45 than H1/H1 individuals (OR = 3, 95% CI = 1.01–8.91). Conclusion: Even in a condition driven by excess amyloid pathology, factors affecting tau are also important and should be considered as potential treatment targets.
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