Genetic Testing?

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saraflem

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Hi there- My grandmother had ALS when she was 73. It seemed to have manifested after her Whipple Procedure for a bile duct tumor. Not sure if there was a correlation there or not. Her ALS doctor mentioned something about trauma, etc. I was wondering if I should be genetically tested. Another thing I should mention is that her mom had Parkinson's Disease. She lived about 20-25 years with it. I read that there are more people with sporadic ALS that have some sort of genetic link than previously reported. I developed small fiber neuropathy 5 years ago due to an antibiotic which have some similar symptoms to ALS except weakness. I hate thinking that everything I experience with SFN "could be" ALS. Maybe I am just trying to calm my mind, Thoughts on genetic testing?
 

Nikki J

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You can ask to see an ALS genetic counselor if you want. However, generally speaking testing of an asymptomatic ( which you are- sfn doesn’t count) person is not recommended unless there is a known family ALS mutation. This applies even for people that have a FALS family pattern which you do not.

the older someone is the higher their risk of ALS so a 73 yo isolated cases is very likely to be so called SALS
 

saraflem

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Thank you, Nikki. The neurologist I saw when I was diagnosed with SFN assumed sporadic as well but I can't help wonder if there is a shared gene with Parkinson's and ALS since they are both neurodegenerative diseases.
 

affected

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How is the health of your mother?
 

saraflem

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She is 62 and in good health. Is there a new link between ALS and Parkinson's?
 

lgelb

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The complex interplay between various neurodegenerative diseases is always under research. There is a rare form of parkinsonian ALS in the Pacific, and many people believe that catalysts for disease onset and progression, like certain toxins, will be similar across some forms of mobility impairment/cognitive dysfunction/emotional lability. But there is no common genetic link between "standard" ALS and Parkinson's per se demonstrated as yet.
 

saraflem

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Thank you. The neurologist at Mayo mentioned there wasn’t a known link but then I read someone on this forum say there might be so was curious if they found a new link between the two. I am just going to assume sporadic as the health of my mom, aunt, and grandmothers brother all are fine as of now. The information out there can be confusing when it comes to genes.
 

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ALS does not skip generations. I just realised however, that I presumed you were talking about your maternal grandmother?
If your mum is fine then she has no way to pass it on to you.
I would go talk to a genetic counsellor to help you make this decision for yourself. I wish you the best in this decision.
 

saraflem

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Will do. Thank you for your response.
 

SusieN

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Actually I have read before that a child can carry the gene but not have enough mutations of it to manifest, but pass it on to a child who might then get enough. It can also depend on the other parent, if they might have mutated genes to pass on.

Five years is a long time. If your symptoms HAD been ALS related, the disease would have manifested and run it's course by now.
 

saraflem

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Thanks! I’m not too worried about the small fiber neuropathy being ALS as I have other symptoms that are not related to ALS such as sensory. They’ve ruled out ALS through an EMG. I guess I was just more curious if Parkinson’s and ALS shared the same gene. Sometimes my mind wanders with the small fiber neuropathy but for the most part I’m not too concerned.
 

Nikki J

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I am not sure what you read. Everyone carries two copies of each gene we discuss. You get 1 from each parent. each will be either mutated or not.

in speaking about autosomal dominant mutations if you get one mutated copy you are at tisk for the associated disease.

what I think you might have been referring to is a mutation that involves pathologic repeats such as C9. Repeats are not stable so if I have 5000 repeats it is certainly true my child could have more or less but recent research is showing that even borderline number 20-30 could be pathogenic. We don’t know yet why some people manifest symptoms early late or more rarely not at all or why it might be ALS or FTD or both. Number of repeats when they are above normal may factor in ( it seems like it should) but it doesn’t seem to be definitive
 
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