Questions about genetic testing with new gene discovery

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abenn

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Hello all. My mother passed away from ALS in 2010 after an almost 13 year battle. She was the only person in her family to have the disease that we know of. Nonetheless, she still did insist on having genetic testing done after her diagnosis which resulted in no familial findings and supported their suspicions that it was SALS. However, since she passed in 2010 prior to the discovery of some of these other, more common genes causing FALS, I can’t help but wonder if we don’t have the full picture. Neither of my mother’s parents had any known ALS symptoms, but her father did have Alzheimer’s Disease late in life. Both lived quite long lives.

She had 3 siblings that all passed away fairly young of other causes (all around the age of 60). One sister had battled with Schizophrenia and and her other sister eventually developed some other sort of mental illness issues that effected her behavior, but I am not sure if she ever got a diagnosis due to not seeking treatment and eventually passing away from respiratory issues from long term smoking. My mother’s brother was estranged from the family but eventually developed some sort of neurological disease that was apparently determined to not be ALS related.

After his passing, I did order a copy of his death certificate to see if that would provide any answers, but it listed only unrelated issues and cancer as the cause of death. His neurological issues did bother my mother when she was alive, and she was somehow able to convince her doctors and him to give her some information on his condition, and her determination was that it was more of a self induced neurological issue - he struggled with drug and alcohol addiction.

My cousins on that side are in their late 40s for the most part and have no known issues. But, as you can see, I go through spurts of driving myself crazy with the what if’s. We certainly don’t have a CLEAR family history, however, some of these other loosely linked diseases that did present in our family make me wonder if there could be a more genetic cause. Is it worth digging into more genetic testing for the off her genes discovered after my mother’s death?
 
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affected

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I'm so sorry about your mum.
None of the diseases you mention are loosely linked to ALS at all and there really isn't any reason to suspect your mum had FALS. FALS families know it - they have people developing ALS along obvious lines. Without a FALS result for your mum I don't think there is much you can do except live your life. Future worrying without cause is wasting what you do have.
 

Nikki J

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From what you have said your uncle likely had an alcoholic neuropathy or dementia - unrelated.
grandfather had Alzheimers at an advanced age. The dementia issue with some forms of ALS is FTD - a different illness. There is no known increase in Alzheimer's risk with these mutations. If he was definitely elderly at onset then misdiagnosis is less likely. The risk of AD in elderly is very high.
schizophrenic aunt there is some increase in schizophrenia in relatives of PALS. You presumably read about it with C9 but it occurs in some degree in SALS too. it is believed that SALS have a genetic susceptibility to ALS that only manifest with a series of triggers. MAYBE different triggers result in schizophrenia in some ( a pure guess on my part)

is there any testing for you to pursue? No! Even in clear FALS patterns which you definitely are not describing testing of asymptomatic people in a family without a genetic mutation identified is not recommended

for comparison my family tree is utterly typical for FALS. My neurologist just nodded when she saw it. My mom was 1 of 5 4 are dead from this, the fifth ( youngest) is battling FTD. My only sibling died from ALS. And I am sick
 

abenn

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Thank you both for the thorough replies. I sure hope we can start pinpointing some gene therapy and environmental triggers to help treat and better understand this awful disease. I have continued to follow some of the experimental studies that my mom’s neurologist has spearheaded. The stem cell trial seems to have some promising results so far. Patients and their loved ones are so overdue for some good news about this disease!
 
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