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v6a5

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Hello,

I am new here, so please bear with me if I break any rules, and feel free to delete this thread.

My grandfather passsed away aged ~65 from ALS after having been ill for 4 years. His brother still suffers from ALS, but he was diagnosed much earlier, almost 20 years ago. His illness moves very slowly and seems to have almost stopped. No one else in my family have suffered from ALS, and we have checked the geneology many generations back.

In the last years, I had a lot of anxiety and worry about whether the disease is familial. Worry about my father, my siblings and myself.

However: I talked to my father about this today, and he told me that both my grandfather and his brother had undergone genetic testing, and that it was found that two different genes were responsible for the disease.

My question is: Does this mean that this isn‘t familial ALS?

I would much appreciate any answers on this as I couldn‘t find anything online (which probably means this situation is quite rare), and sorry again if I have broken any rules if the forum.

Thanks.
 
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Are you saying that both people tested positive for a known genetic mutation but they were different mutations? And they were brothers?

Do you know ehat the mutations were and if each one was tested for the mutation his brother had? When was the testing performed for each person?

If there is a genetic mutation that your grandfather had then his children have a 50 percent chance or inheriting it.

Are you sure this was proper genetic testing and not 23 and me type?

I know there are people with FALS who end up having more than one ALS mutation in the same individual. I think it quite likely they would have relatives sho inherited only one or the other

I suggest gathering records and speaking with a neurogenetist. Unfortunately siblings with ALS is a situation highly suspicious for FALS
 
Nikki,

Thank you for your reply.

Yes. Because both my grandfather and his brother were diagnosed with ALS, they were tested at the same time to determine whether or not it was FALS. As far I have understood, each of them had one known genetic mutation, but they were different. It was proper genetic testing done by medical professionals.

What does this imply?
 
I would find out what the mutations were but if your grandfather had a mutation that is a recognized ALS mutation that is the one you need to worry about. If he did not carry the one his brother had then it would be impossible for him to pass it to your dad.

Your dad has a 50/50 chances of inheriting a mutation from his dad. If he did not inherit it then you are not at risk.

What the mutation is is important too. Some mutations are almost 100 percent pentrant , meaning you have the mutation you get the disease. Others are less so and carriers may live a normal lifespan and never get ill.

Get the information and see a neurogenetist if you are concerned. I think getting the records is important to know the mutation and to be sure your dad received accurate information
 
Thanks so much for the helpful reply. I will try to gather the information to see what was happening concretely.
 
Is your father willing to get tested?
 
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