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What is your mutation?
My family has the mutated SOD1 gene; and there are at least 2 different variants.
Which mutation and variant do you have?
Do you know how this mutation and variant typically progress?
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7 Replies
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Hello,
I do not currently have ALS or FTD. I have the C9ORF72 mutation. I am 63 and currently being worked up for some findings of new denervation on my last EMG/Nerve conduction study. My father at age 45 and his sister at age 61 died of ALS and my Paternal grandfather, and another paternal aunt died of early onset dementia in heir early 60s and we do not know if they had the C9 mutation. My younger sister died this year in August at age 59 of early onset dementia after 8 years. She was C9ORF72 negative. Repeated twice because the doctor found it hard to believe with our family history that she was negative. We are having a brain autopsy done at Methodist in Houston where my brother (no ALS or FTD currently) who is C9 positive is in the ALLFTD study. The results will take up to 6 months. (I am in the ALLFTD study at UCSF).
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I have c9orf72 expansion and ALS-FTD diagnosed
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I am sorry to hear that Harry. Have you had other relatives with ALS or FTD or both? How old were you when you started having symptoms?
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My family clearly has some genetic form of ALS. My grandfather died of bulbar ALS at 52. Many of his grandchildren, including me, suffer from some form of the disease, including ALS, FTD, lewy body dementia, late-onset borderline, late-onset schizophrenia, and late-onset bipolar, among other afflictions. Neither my cousin (with FTD) nor I (with ALS) have C9 nor SOD1 mutations. This does NOT mean we don’t have a genetic form of the disease. It just means the medical community has not discovered the genetic connection behind our neurodegenerative disease.
This is similar to the BRCA-1 and -2 genes for breast cancer. This was the first genetic connection to breast cancer, but it is not the only one. ALS will eventually be the same way. There will be a variety of genes that come into play.
I am so sorry you have this issue, Terri. I wish you nothing but the very best.
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i am30 + on my c-9 test in 2021.my father died of als at 50.My mothers sister died of als at 43.Two sisters died of als,(45 and 53 ).lost sister to ftd at 60.and a sister was lost to bulbar als at 70.and my brother has FTD late stages at 72.And last of al my parents had a research paper on the family tree back on 1975 by a dr. milton alter.
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Terri, my older brother has ALS too… no where else in family
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I have fALS, SOD1, Exon 5, c.455t>G variant. This is not a very common variant. My mother died over 45 years ago at the age of 56, but I don’t know of any other family members. I am a slow progressor, receiving Qalsody.
Harry, I am so sorry to hear of your diagnosis. My husband died 8 years ago from FTD.
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