AdBlock Detected

Sure, ad-blocking software does a great job at blocking ads, but it also blocks some useful and important features of our website. For the best possible site experience and to help support our community please take a moment to disable your AdBlocker.

Genetic testing

Status
Not open for further replies.

Emanol

Active member
Joined
Apr 3, 2018
Messages
58
Reason
Loved one DX
Diagnosis
09/2017
Country
SP
State
NY
Hello,

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.

Best,
E.
 

affected

Guru status reached
Joined
Apr 26, 2013
Messages
11,578
Reason
Lost a loved one
Diagnosis
05/2013
Country
OZ
State
home
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.
 

affected

Guru status reached
Joined
Apr 26, 2013
Messages
11,578
Reason
Lost a loved one
Diagnosis
05/2013
Country
OZ
State
home
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.
 

Emanol

Active member
Joined
Apr 3, 2018
Messages
58
Reason
Loved one DX
Diagnosis
09/2017
Country
SP
State
NY
ALS or PLS, neurologist said "99% convinced of MND"
 

affected

Guru status reached
Joined
Apr 26, 2013
Messages
11,578
Reason
Lost a loved one
Diagnosis
05/2013
Country
OZ
State
home
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.
 

Emanol

Active member
Joined
Apr 3, 2018
Messages
58
Reason
Loved one DX
Diagnosis
09/2017
Country
SP
State
NY
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.
 

affected

Guru status reached
Joined
Apr 26, 2013
Messages
11,578
Reason
Lost a loved one
Diagnosis
05/2013
Country
OZ
State
home
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.
 

dldugan

Distinguished member
Joined
Oct 5, 2018
Messages
203
Reason
PALS
Diagnosis
09/2018
Country
US
State
illinois
Although I don’t suspect FALS, I have opted for genetic testing. The cost will be covered by Medicare and our supplemental insurance.
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
7,356
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
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
 
Last edited:

Emanol

Active member
Joined
Apr 3, 2018
Messages
58
Reason
Loved one DX
Diagnosis
09/2017
Country
SP
State
NY
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).
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
7,356
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
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.
 

Emanol

Active member
Joined
Apr 3, 2018
Messages
58
Reason
Loved one DX
Diagnosis
09/2017
Country
SP
State
NY
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.
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
7,356
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
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
 

affected

Guru status reached
Joined
Apr 26, 2013
Messages
11,578
Reason
Lost a loved one
Diagnosis
05/2013
Country
OZ
State
home
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.
 

lgelb

Forum Supporter
Moderator
Joined
Nov 5, 2009
Messages
7,331
Reason
Lost a loved one
Diagnosis
09/2009
Country
US
State
WA
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.
 
Status
Not open for further replies.
Top

AdBlock Detected

We get it, advertisements are annoying!

Sure, ad-blocking software does a great job at blocking ads, but it also blocks some useful and important features of our website. For the best possible site experience please take a moment to disable your AdBlocker.

I've Disabled AdBlock