April 22, 2021 at 7:20 am #18566AmandaKeymaster
Do you have a genetic mutation (if so, do you know which one) or is your case sporadic ALS?
April 22, 2021 at 2:43 pm #18576BillParticipant
I’ve almost certainly got a genetic mutation do to two deaths, my ALS and another rare motor neuron disorder in my immediate family. Crazy but it is 4 different rare MND’s. I’ve had my genome run as well as my deceased dads. My sister’s is being run. Even running my now deceased mom’s. So far struck out for any known mutations. Got to be ultra rare and statistically impossible to be sporadic.
April 22, 2021 at 3:07 pm #18579Jean-Pierre Le RouzicParticipant
> Got to be ultra rare and statistically impossible to be sporadic.
Or yet not discovered.
There are many different forms of mutations.
C9orf72 was totally unexpected and very difficult to find, it needed two international teams working two years.
The main reason was that the test at the time (2011) were unable to detect the kind of dysfunction C9orf72 creates. The scientists had to invent a new PCR technique.
- This reply was modified 5 months, 1 week ago by Jean-Pierre Le Rouzic.
April 22, 2021 at 3:27 pm #18581David CrellinParticipant
c9orf72, inherited from my mother, and her mum, sister and her son all died with early onset dementia (FTD?). My younger son (28) carries the gene mutation & my elder son (30) has yet to be tested. My sister, a doctor, won’t get tested so her three adult children have to decide. One of them about to start a family.
April 22, 2021 at 4:04 pm #18577Fran FinneyParticipant
Amanda – If they don’t have familial ALS, I don’t think most PALS get a genetic test to see if they have a genetic mutation that might predispose them to ALS, and they are just considered “sporadic”. Familial ALS is inherited, as opposed to a developed mutation, and is carried in families, and right now there are I think four different genes that have been established to be transmitted though families and can result in ALS. But in terms of genetic mutations in people who have no family history, it is still an area that is poorly understood and being researched. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6909825/
April 22, 2021 at 8:49 pm #18587AnonymousInactive
My C9orf72 results were negative. Grew up alienated from both maternal and paternal families so I have no clue if anyone on either side ever had ALS. My only link is to my brother who left this world with a definite ALS diagnosis. I would say I am assumed fALS, but it is not conclusive because they did not test for genes other than C9. Technically I do have fALS because of my brother, but the presentation is like day and night between him and I.
April 23, 2021 at 1:19 am #18589Jean-Pierre Le RouzicParticipant
> they did not test for genes other than C9
This is a bit weird. There are two technologies used to know if there is a mutation:
* Either they use an antibody to the mutated protein. This is a very imprecise way to test even for simple point mutations as in SOD1 A4V and it tests only for a specific protein. Nearly every carriers of C9orf72 mutations have different kind of mutations.
* Either it is genome sequencing. This is a more precise method and all genes are checked. There are even free resources on the web for people who want to know more.
> the presentation is like day and night between him and I.
C9orf72 mutations are very different from one person to the next. They can even give way to different diseases like ALS, but also FTD (a dementia) or one of the Ataxias. Sometimes there are people with Alzheimer or Parkinson that have C9orf72 mutations. It’s a very tricky gene and scientists do not understand much about how the C9 disease develops.
April 24, 2021 at 4:07 pm #18595AnonymousInactive
My test was ordered by the Dr and Mayo Clinic. He promised they would approve it through my insurance. They didn’t approve it and I ended up paying out of pocket. That was the first lie from that same Dr. Mayo pretty much abandoned me in May-July 2020 (never responded for the scheduled appointment date). Finally in Sept 2020 they contacted me, but I had already moved on to another (VA) neurologist…VA Neuro (Orlando) said they would look at genetics but they seem to have dropped the ball.
I seem to be going in circles on DNA tests.
April 23, 2021 at 8:46 am #18590Suzanne GalloParticipant
Still awaiting the genetic test results from my PALS Michael’s cheek swab. Michael’s Dad had Parkinson’s Disease, and his paternal grandmother is a mystery to us, though we have been told that she spent the last years of her life bed-bound. We assumed it was dementia- but we don’t know for sure. Estranged family relationships on both sides for him. Cousins died young from other causes.
But my dad had ALS, he passed 4 years ago. He was tested for genetic form at Johns Hopkins- negative. I don’t think ALS is rare.
April 23, 2021 at 12:04 pm #18591CarolParticipant
Diagnosed 04/14/21 with sporadic ALS after more than a year of progressing symptoms.
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