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Do you have Familial ALS?
As I mention in my welcome email, I have a mutated gene which has caused my ALS. Does anyone else in the forums have a genetic mutation associated with ALS? If so, which gene is mutated?
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18 Replies
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Hi Amanda
I have C9orf72/Als . My younger sister died from the same C9orf72/Als.
We think inherited ALS from my father side, my grandmother and aunt died with odd diseases, I was young when it happen, not much info about it.Do you know which mutated gene of yours is responsible for your ALS?
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Hi Jalves,
I do. I have a mutated SOD1 gene. I think I’m the 14th or 15th person in the family. It also runs down my father’s side.
Are you volunteering for any research?
Amanda
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I have a defective c-9 gene,high risk.I have lost 2 sisters to als,1 to bulbar als,1 to FTD,and i am losing a brother to FTD.I am in a study at Colombia for als and mayo up in MN. for a check on the FTD issue
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No such luck here in Portugal/Europe, clinical trials are scarce.
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That’s terrible! I know clinical trials are limited but I didn’t realize how limited in that area.
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My brother and I both have pathogenic c9orf72 expansion. He is limb onset I’m bulbar/respiratory with limbs more UMN with minor LMN relatively speaking.
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After losing my twin who was fraternal, I just lost a cousin a few months ago. She was told she had ALS but it was loss of balance overnight from a busy job taking care of folks. She was working full time and woke up one day with a balance issue. In 5 months she was gone! She was missing alot of the symptoms of ALS. I had to watch my twin suffer thru it. I have done alot of research and it really seemed more likely to be a form of progressive MS which can follow if your parent had Parkinsons which her Dad did. I tried to get her family to test her remains but they didn’t just like my twin!! I am going to discuss it with my primary care physician and ask if I can get a genetic test. Looks like I am the only one that wants testing for others.
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Romy-h,
You are in a tough spot. I admire your dedication to helping other pALS and learning more about ALS. My cousins were the one who got my family involved. To be it was a no brainer. My father, who at the time had ALS, did not want me to participate. I really think it was more about thinking or learning I had the mutated gene. He felt responsible and didn’t want to think about me suffering. I often wonder what he would think now after everything we’ve learned. Not to mention I’m on QALSody and it’s keeping me alive and halted the progression. Without people volunteering we would not have that treatment for SOD1 ALS. I’m convinced that other treatments will show success as well. It’s been and continues to be a long road but we are making gains. Not enough, but it will only be enough when every pALS has a treatment or cure. Keep advocating and participating! You are making a difference.
Amanda
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My Brother passed from ALS in 2015. I was tested for genetic links after I was diagnosed, but no genetic links were identified. I have 18 C9orf72 repeats, but this does not qualify as an ALS trigger (32 repeats).
The ALS Clinic registered me as Familial ALS because of my Brother. Research into genetic links remains limited. They will likely find many more related genes to ALS in the future.
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C9ORF72, caused bulbar ALS and FTD
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pALS with a mutated gene – do you go to an ALS clinic that is involved in familial ALS research? If not, what does your health plan look like? What do you think should be different?
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I was found to have the C9ORF72 gene. My paternal grandmother first showed signs of ALS and then was diagnosed. Then my aunt was diagnosed with ALS and several of her brothers and a sister were diagnosed with FTD. I also had two cousins with ALS and one cousin who had ALS/FTD. I have four siblings and three of the four tested negative. My older sister doesn’t want to know so she wasn’t tested. It was a very hard thing to accept when I found out, but I am doing much better now and actually living my life to the fullest.
We (my siblings and I) are currently in the ALLFTD and DIALS (this is changing to the Prevent) studies. The study site was very excited to have all 5 of us enroll.
The only thing I wish, is that there was a central location for people with C9ORF72 since there are two diseases that we could get. It would be nice to have all of the research and information in one location.
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I have C9orf72/Als. My mother died for FTD in2009: and therefore, I believe I got this from my mother. I was diagnosed in January 2025. I am on Riluzole. It started with my right hand and I have noticed I walk slower, and have cramping in my legs in the morning. I am actively searching for appropriate drug trails.
Carla
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My mum died of ALS twenty years ago and l seem to be experiencing symptoms seems like bulbar..with trouble swallowing and breathing at times and visible loss of muscles in neck and shoulders. I consulted with a neurologist who did a nerve function test and did find some nerves were absent but did not diagnose ALS and declined to test for familial ALS. Does anyone know where in South Africa l can test for this. Will appreciate any advice 🙏
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Yes, my family has Genetic ALS caused by the C9 mutation. We have a large Familial/Genetic ALS & FTD community, if you’re interested in joining us. We also have gene specific groups. Most of us are involved in research.
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It seems from the replies that the C9orf mutation in more common for our online community. I was expecting some with the SOD1 – was hoping for more SOD1 since there is a treatment available and more treatments on the forefront of research.
My doctor explained why the C9 mutation was more difficult to address in the treatments. The science is a bit over my head, but if I recall correctly it had to do with it being more difficult because the mutation repeats.
“The C9orf72 (C9) repeat expansion is generally considered more challenging to edit using gene editing techniques like CRISPR-Cas9 than the SOD1 mutation primarily <mark style=”font-family: inherit; font-size: inherit;”>due to the nature of the mutation and the technical difficulties in targeting and correcting it</mark>. C9 mutations involve large, variable expansions of a specific DNA sequence, while SOD1 mutations are single point mutations.
Here’s a more detailed breakdown:
Challenges with C9orf72:
<ul jscontroller=”M2ABbc” jsaction=”jZtoLb:SaHfyb” data-hveid=”CCQQAQ” data-ved=”2ahUKEwjDiamO7q-NAxXWSTABHbRiHFMQm_YKegQIJBAB”>
Large Repeat Expansions:
C9 mutations involve hundreds or even thousands of repeats of a DNA sequence, making it difficult to target and edit with precision.
DNA Low Complexity:
The region surrounding the C9orf72 expansion has low complexity, increasing the risk of off-target effects (editing unintended locations in the genome).
Difficulty in Identifying and Correcting Expansions:
Traditional sequencing methods are inadequate to accurately size large repeat expansions, and detecting C9orf72 RNA and protein products can be challenging.
Technical Hurdles with CRISPR-Cas9:
The large size of the repeat expansions and the surrounding low-complexity region make it challenging to design effective CRISPR-Cas9 systems that can target and correct the mutation without causing unintended edits.
SOD1 Mutations are Easier to Edit:
<ul jscontroller=”M2ABbc” jsaction=”jZtoLb:SaHfyb” data-hveid=”CDkQAQ” data-ved=”2ahUKEwjDiamO7q-NAxXWSTABHbRiHFMQm_YKegQIORAB”>
Single Point Mutations:
SOD1 mutations are usually single point mutations, making it easier to target with CRISPR-Cas9.
Established Target Sites:
The SOD1 gene is well-studied, and there are established target sites for gene editing, making it easier to design effective CRISPR-Cas9 systems.
More Efficient Targeting:
Single point mutations are easier to target and correct with CRISPR-Cas9, leading to higher editing efficiency.
In Summary:
The C9orf72 repeat expansion is more difficult to edit due to its large size, the surrounding low-complexity DNA, and the technical challenges in accurately targeting and correcting the mutation with gene editing tools like CRISPR-Cas9. SOD1 mutations, being single point mutations, are generally easier to target and edit.” (from google search)
Here is an article that might help some — https://pmc.ncbi.nlm.nih.gov/articles/PMC5880162/#:~:text=When%20comparing%20mutation%20rates%20of,2013).
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Hi I’m C9orf72 from my father’s side. So far one individual from each generation but FTD is present in each generation also.
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Hi Amanda,
I was diagnosed August 13, 2024 with familial ALS. The genetic mutation I have is SQSTM1. I am not enrolled in any clinical trials as I’ve been informed by my ALS clinic that I don’t match up to the current available trials.
I am still holding on to hope (I’m careful to not rely on heavily on hope) that something may come along.
My current ALSF-R score is 36. When I was diagnosed in Aug’24 my score was 43.
The clock is ticking…hurry up please!
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