ALS C9orf72

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cavgeris11

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My father was diagnosed with ALS roughly two years ago but they just recently decided to do a DNA test and he is positive for the C9orf72. They told me that it is a dominant gene but I cant find a for sure answer to my question. Will I and my kids get ill as well? Is there anything else I need to ask from the results.

Thank You All
 

Nikki J

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If your dad has the C9orf72 mutation you have a 50 percent chance of inheriting it. If you do not then your children will not have it either. If you do then each child has a 50 percent chance of inheriting the mutation from you

the other issue if you have a mutation is how penetrant it is. This means how many mutation carriers will get sick in their lifetime. Generally C9 is considered almost completely penetrant by one’s 80s.

now for good news. There is a lot of c9 research being done. There is one drug in trial that we hope will help. If it is proved safe and effective then a prevention trial for carriers will be next. There are 2 other gene therapies that are almost ready for trial and some other targeted approaches too. Much more in the pipeline. C9 is relatively common and many researchers want to fix it.

now for my soapbox. As a first degree relative of a mutation carrier your help is urgently required. Those presymptomatic trials need biomarkers from carriers and we aren’t quite there yet. You can participate without knowing your status if you prefer not to be tested. Your siblings and your dad’s siblings could also participate
 

cavgeris11

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I want to get tested but worried if I do I will have issues in the future with health and life insurance. My fathers neurologist said they would test my anonymously but not sure how that would work.

I dont fully understand your talk about penetrate if you could elaborate please.

My father has two sisters and one passed away a few years ago from als and the other is has has walking issues for years and not has rail along the house to get around. Unfortunately they live in Greece so testing isnt as good there and get any info is harder.

Thank You
 

Nikki J

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Health insurance is protected by GINA law and preexisting condition too. Other types of insurance are not so you either need anonymous testing and not to mention it to your medical providersor to get everything you want in advance of any counseling Testing in studies may be protected otherwise you pay for everything for anonymous testing and your name doesn’t go on it. I know it is done at my clinic but not sure exactly how

if a mutation is fully penetrant you will get the associated disease if you live long enough. That is c9. But there is hope as I said even if you do have it.
 

Anjum nazir

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I disbmy clinical exome study for mnd genes in 2018..it came inconclusive...I sent the raw data to kings College London and they told me they have not tested repeat sequence genes like c9.. actually they do not have technology here to trace for such genes .

I have a strong family history of the disease...lost mother and two aunts to it but is a slowly progressing one ...but still do not know the genetic cause...

Can I undertake testing there and if yes how...and what will be the cost involved...
 

Nikki J

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C9 can not be detected in standard sequencing but it is a separate test You need to ask your doctor how it can be done for you. The cost also would vary. Here it is usually around 200 US. It is most often a blood test but I do know people who have had a cheek swab. C9 is less common in Asia but here is a report on Indian cases ( so it must be possible to test there) (PDF) C9orf72 Hexanucleotide repeat expansion in Indian ALS patients: A common founder and its geographical predilection. Perhaps you could contact the authors if your doctor can not help you
 

BarrCarr

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Regarding: "If your dad has the C9orf72 mutation you have a 50 percent chance of inheriting it."
What medical authority says C9orf72 is a 50% chance?
 

Nikki J

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It is genetics and what every FALS person should be told by doctors and genetic counselors
. I see you have c9? Did your counselor or doctor not explain this?
 

Nikki J

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64370834-FEEC-4774-ABBF-39ACBFE7E44A.png
 

rmt

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To clarify, there are two things at work here: inheriting the mutation and getting ALS. You have a 50% chance of inheriting the mutation. If you do inherit the mutation, then you have some percent chance (but apparently not 100%) of getting ALS or dementia. The 50% inheritance is just how generics works. Whether you get ALS from the mutation is called "penetrance" and that is how often the mutation causes the disease.
 

jethro

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if i am c9 +, can i test my children now, or it emerges by time?
 

Nikki J

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In the US they won’t test minors. In my opinion it should never happen. It is an adult onset disease often late in life and not actionable at all for a child. An adult can choose and may wish to for many reasons including family planning. It would be unethical to take the choice away from a child when there is no benefit for them at all. As an adult they may not want to know You are jumping way ahead of yourself since you haven’t even found out if you can get a test yourself
 

AniSk

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I have lost my father, aunt, grandfather and at least 2 of his siblings to FALS, c9 mutation. I have chosen to participate in ALS families project out of Columbia Univ hospital in NYC. I went for my initial 2 years ago with a follow up coming in a few weeks. They provide testing and genetic counseling, however, at this time I have chosen not to find out my results. If/when they open up any trials for pre-symptomatic family members I will likely want to find out so that I can participate. My hope for my children is that by the time they reach the age where they are impacted, there will be an effective preventative and treatment.
 

GXTrex

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@AniSk

Dr Harms from Columbia recently said i could only participate in research if i was positive as they couldn't afford to keep negative participants in the study. I suppose their policy has changed over the years. What are they doing at the follow up? Is it a spinal tap or just to talk with you?

How old are you if you don't mind me asking?
 

AniSk

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I’m 42, almost 43. For the study, I met with the genetic counselor, had lab work, skin biopsy, breathing test, neuro exam, and EMG. I declined the spinal tap, as this, at least at the time, was optional.

They did test for c9 mutation but, at the time, said that participants could choose whether or not to find out their results and that none of the people working with us would know the results unless we had chosen to know. I guess the policy has changed since then and you need to first be tested and confirmed positive?
 
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