This is a page I’ve created to find people with the same genetic variant on their PSEN1 gene as I have.
Over time I’ll populate it with thoughts on my own personal journey but right now I may as well start by highlighting my status.
I have a mutation on my PSEN1 gene which in all likelyhood will lead to early onset Alzheimers disease.
The mutation is defined as R269H or Arg269his – Alzforum has a limited amount of further information here: https://www.alzforum.org/mutations/psen1-r269h
I was initially made aware of this when I took a 23andme DNA test. The service itself doesn’t disclose information this detailed but I was able to download the raw data which covers pretty much most of my genome and I sent this to the Promethease interpreter.
Promethease compared my DNA data against all their available genetic research papers and this showed up:
So far I’ve been told that I’m ‘all but certain’ to develop Alzheimers disease. Not good.
However one of the reasons for this web page is to reach out and be visible to others in a similar position because when I went looking I couldn’t find anyone similar.
This is a rare mutation but it’s also an incredibly variable one which starts to affect people between 50-65 years of age.
Here in the UK there are about 200 known families with the Arg269his / R269H PSEN1 mutation.
With the above results I’m very interested in the implication that it appears so often in results. It could be much more common than originally thought.
On that basis, I’d love to hear from anyone in the same position to find out a bit more about their families age of onsets and also if any have remained without symptoms into old age. I only know of one other family with this mutation and one of their family members is in their mid 70’s without symptoms so the outcome may not be as certain as initially thought.
Most people diagnosed with Alzheimers disease over the age of 65 do not get genetically tested which puts into question if it’s truly early onset or just incredibly variable.
If you’d like to contact me my email address is arg269his@gmail.com