• Fran Finney replied to the topic Genetic Mutation or Sporadic ALS in the forum Living With ALS 1 year, 3 months ago

    Amanda – If they don’t have familial ALS, I don’t think most PALS get a genetic test to see if they have  a genetic mutation that might predispose them to ALS, and they are just considered “sporadic”. Familial ALS is inherited, as opposed to a developed mutation, and is carried in families, and right now there are I think four different genes that have been established to be transmitted though families and can result in ALS. But in terms of genetic mutations in people who have no family history, it is still an area that is poorly understood and being researched. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6909825/

    • Hello Fran,
      There are at least a dozen genes with mutations, and some of those genes have multiple mutations identified. Some researches suspect that all cases involve a mutation, just many mutations have not been identified yet. There are several theories so we will see how this all pans out hopefully sooner than later. I attended a zoom meeting for a pre-fALS study that I participate in on Tuesday. It was amazing many of the things I learned. Future treatments may likely be based on the mutation identified. There are already clinical trials doing this as we speak. pALS can request genetic testing or many ALS clinics involved in research may do the testing because they need information for their research. The information in this area is rapidly changing.

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