The presence or absence of the PSEN1 E280A variant alone did not influence cognitive function in children with autosomal dominant Alzheimer disease (ADAD). However, boys with the variant had decreased working memory compared with girls with the variant and either sex without the variant.
Why this matters
There is almost 100% penetrance in individuals with ADAD.
This allows for early biological changes related to the disease to be characterized, such as cognitive function.
As ADAD can manifest early in childhood, the cognitive performance of children with the PSEN1 E280A variant can be compared with those without the variant, as well as determine whether sex is a factor in cognitive performance.