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Active member
Apr 3, 2018
Loved one DX

We are wondering whether to do genetic testing... There have been no more known cases of ALS in our family, apart from my recently diagnosed father. However, a cousin of my dad had MSA and another cousin is now being seen by neurologists with suspected Parkinson's disease. On the other hand, my dad has 19 cousins on his dad's side, so I don't know if those numbers are relevant... His dad died very young, at 33, so hard to tell if he would have developed something. However, none of his seven siblings died of neurological disease and had normal lifespans.

I know that C9ORF72 is associated with both MSA and ALS... is this something that I should consider testing for? What do people think? Am I fricking out for no reason? Perhaps 3 neurological disorders are not uncommon in a group of 20 cousins, especially when no one from the previous generation was affected, but it still worries me a little bit.

Nikki is most knowledgable about this but you are freaking out for no good reason.

3 different neurological diseases does not make a case for FALS.

Everyone I know that is FALS have multiple family members over their lifetime with the disease, with far smaller number of cousins than you have. All of his siblings had no ALS so the chances of his being inherited really are so tiny your are clutching at straws.

Please do talk to your neurologist however or a genetic counsellor to put your fears in perspective.

It is very frightening to see someone go through ALS, but it is a rare disease, and FALS is even more rare.
Does your father have a definite diagnosis of ALS? Sorry I just looked at your posting history and it seems to be all over the place and I don't have time to read every different thread in detail.
ALS or PLS, neurologist said "99% convinced of MND"
Yeah that is where I was confused as I saw lots of maybes winding through.

They are quite different diseases, if true PLS it can take 3-5 years to diagnose and it is not fatal. Some people with ALS begin with only UMN symptoms and it is thought to be PLS but as LMN start the diagnosis is changed. They do of course both come under the umbrella of MND, there is a difference in which MN are involved and the EMG usually helps sort that out.
Yes. First EMG was clean. Second EMG had some abnormalities which could be attributed to LMN damage, but there was no active denervation. Anyway, the neurologist would want to wait another year (he has had symptoms for 3) before a confirmed PLS diagnosis. It might be very UMN dominant ALS.
Try to just relax a bit on the whole FALS thing. Honestly, if it was in your family, you would know, especially with a large family.
Although I don’t suspect FALS, I have opted for genetic testing. The cost will be covered by Medicare and our supplemental insurance.
I don’t know anyone with C9 who has MSA in their family tree. Other neuro issues are discussed a lot in the FALS and C9 groups. It does not appear in lists of associated conditions( aside from the one reference at least not that I found) and it isn’t something the doctors, researchers and genetic counselors have brought up.

I found the reference you probably did and wonder if 1 the MSA diagnosis was accurate and 2 if it could possibly have been a bizarre coincidence

Of course it could be a rare manifestation. C9 is still mysterious and more will come out in the future about its affects.

If your dad wishes genetic testing I don’t think it is unreasonable but your health system may have rules governing it. Whatever, though, I would not worry for yourself. Answers are very close for C9
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Thank you Nikki and affected.

I have been reading more about c9 and I guess it is unlikely that is the mutation responsible for his disease. After all, the two people that developed MSA / Atypical Parkinsonism in our family are the children of healthy parents who are still alive well into their 80s. For what I've learned of the gene, it is impossible to pass it if you don't have it, and highly unlikely that you would have it and not show symptoms. However, I would still assume that there might be some genetic component, all the more when my father was first misdiagnosed as having atypical Parkinsonism (doubtlessly it might have been influenced by what they knew of their family history, but it is true my dad's ALS / PLS has been much more about spasticity and rigidity than about weakness and atrophy).
The penetrance of C9 is very close to 100 percent by 80. I believe it is supposedly 100% percent in males by 82 ( is anything 100% in this life though) and 96 % in females by 84.
Thanks for the help!

So, bearing in mind that both of his cousins with Parkinsonism / MSA are the children of healthy parents well into their 80s, would that rule out c9? Are there other mutations that cause ALS and that can be passed down even if they are not expressed by the parent? I just think that three neurological diseases in a group of 20 cousins seem a significantly high amount and it is likely there is some genetic component to it.
Not of the major FALS mutations. C9 really is the one that seems associated with the broadest set of presentations. The prevailing theory though is that those with so called SALS have a genetic weakness that given the right ( or wrong) set of triggers leads to ALS. This explains why the vast majority of US military veterans do not get ALS but the incidence among them is higher than the general population. There is some trigger for susceptible people that veterans have experienced that their susceptible civilian counterparts avoid. Obviously there are other triggers When they learn what those triggers are it will be very helpful
I have never heard that there is any relationship between Parkinsonism / MSA / ALS linked to any gene, let alone C9.

I could be wrong, but my understanding is that C9ORF72 can cause ALS and or FTD.

Just because those are diseases of the nervous system does not make them automatically linked. Again I'm no expert, but I haven't read anything, nor ever heard anything reported here to say they are.
Yes, this review summarizes the variety of C9 links reported in multiple studies, even going as far as Huntington's. From the evidence so far, it may not be the primary cause for these rarer presentations, as much as a straw on the camel.
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