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Faulty genes
Hi I was diagnosed with als in may 2024 although I think l have had it coming on for a couple of years previously. I have had my genome done and I have a faulty gene ATXN2, has anyone else got this ? Is there any treatment that may be available?
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7 Replies
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We invite you to connect with our Genetic ALS community where people with many of the genes are represented. Look for End The Legacy or email me [email protected]. Also find us on FB: Genetic ALS or Familial ALS. You are not alone!
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Hi, I was finally diagnosed last July after 2.5 years of symptoms. My first genetic test in April of 2022 was all negative but we did another one this past February and the ATXN2 mutation came back positive for intermediate repeats of CAG (32). No one in my family history has had als. Biogen, who produced Toferson for the SOD1 gene mutation was working on clinical trials for knocking down the ATXN2 protein but despite positive results in mouse models there was no success with people. They ended it in 2022 I believe. I tried emailing the company but no response. How are you doing? I’m going back to clinic next week and plan to discuss with my Neurologist.
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Hi, Have you checked this site for other trials that are open right now? There are many other resources here as well. https://www.iamals.org/resources/als-signal-clinical-research-dashboard/
iamals.org
ALS Signal - A Tool to Explore Clinical Trials and Treatments
ALS Signal is a dashboard designed for and by those living with and impacted by ALS. Learn more about clinical trials and gain access to experimental treatments
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Hi and best regards from Switzerland, I attended the BIOGEN study, BIIB105 in the Netherlands at the UMC, Utrecht for 1.5 years. This study was stopped in April 2024 as the ASO did not show any positiv results. I am a ATXN2 31/29 carrier and at the UMC they told me, that the have out of a dadabase of over 10’000 ALS persons (ProjectMine – https://projectmine.com/), 10 with the ATXN2 31/29 gen repeat mutations, and that all show a ALS. I expect a publication on this subject within the next monthes, as a everage living span was indicated with 7.5 years after diagnose.
projectmine.com
To understand the genetic basis of ALS and to ultimately find a cure for this devastating, fatal neuromuscular disease, Project MinE aims to analyse the DNA of at least 15,000 ALS patients and 7,500 controls. The resulting 22,500 DNA profiles … Continue reading
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Hi, I have new information about the my ATXN2 gen repeat expansion. As it looks like, I am the only ALS patient affected by the ATXN2 gen repeat expansion 31/29 in a large database of over 13’000 ALS patients. Does anybody has information why the different repeats have so many different surviving expectation?
Thanks and best regards from Switzerland, Peter
https://pubmed.ncbi.nlm.nih.gov/41728197/
pubmed.ncbi.nlm.nih.gov
Here we report an apparently novel autosomal recessive form of familial ALS caused by bi-allelic intermediate ATXN2 repeat expansions, which is characterised by high penetrance, lower limb onset and slow progression. Although rare, testing for ATXN2 expansions should be performed … Continue reading
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Hi Peter,
Have you connected with our End the Legacy community? We have members from around the world who have various mutations.
a. Please subscribe(at bottom of home page) to receive emails about virtual meetings, webinars and our upcoming conference. https://www.endthelegacy.org/
b. YouTube https://youtube.com/@end_the_legacy?si=Fyg34CpAg8gIyfOb
c. FB https://www.facebook.com/familialals/
1. Familial/Genetic/Inherited FTD Support: https://www.facebook.com/groups/639484460737933
2. Familial ALS(oldest and largest group) https://www.facebook.com/groups/50168557397
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Happy new Year :), I have a question concerning the connection between the different gens. Does anybody has information about the published work of ApoE4 https://pubmed.ncbi.nlm.nih.gov/39722190/ and ALS gens? As the ASO trial from BIOGEN did not work for the ATXN2 gen expansion it might have a reaction with the ApoE4?
pubmed.ncbi.nlm.nih.gov
Proteome changes associated with APOE4 variant carriage that are independent of Alzheimer's disease (AD) pathology and diagnosis are unknown. This study investigated APOE4 proteome changes in people with AD, mild cognitive impairment, and no impairment. Clinical, APOE genotype, and cerebrospinal … Continue reading
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