Hi everybody, I'm new to this forum so a small introduction is appropriate maybe: I'm 25 year old and my dad recently died from ALS, a few years earlier also his sister died from this horrible disease. My neurologist told me that this cannot be a coïncidence and it must be familial ALS.

By now only a test was done for the SOD1 mutation and results were negative. What other mutations can be tested already? I know there is still TDP43 and FUS, any more than these?

I am not at all happy the way I got treated by my neurologist and decided to send out my dad's DNA to be tested elsewhere. Any ideas which institute (I guess ALS TDI doesn't do these kind of things, Dr. M?) can do ALL these mutation tests in a reasonable short period of time?

I would really like to know what mutation (if already known) we have in our family since some of my family members are thinking about having children and we would like to wipe out this horrible disease for the next family generations to come, by using in vitro techniques to eliminate the gene mutation.

Thanks a lot in advance,

Tom.

Bear in mind that it is statistically possible for this to be sALS. There have been instances of married couples both being diagnosed. Unless you can chart more cases in your father's family, don't worry yourself unduly.

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ENV
= Le meilleur vin, avec les meilleurs amis. =

Small update here: I was able to get it tested on TDP-43, FUS and ANG too lately. All results were negative. Can anyone please come up with a list of all known mutations by now? My goal is really to get it tested on ALL of them as fast as possible. Thanks a lot in advance!

Unfortunately, it’s difficult to eliminate all the potential mutations that can give rise to ALS. One aspect is that only around half of all fALS (as a first approximation) are linked to some of these reasonably-well characterized genes (SOD1, TDP-43, FUS, etc). So the remainder can’t realistically be searched for. Secondly, even in these identified genes, there is well the possibility that tests could miss certain mutations. This is yet not typically the case in SOD1 but I think it’s early days to conclude on some of these other genes. This latter issue is particularly evident, for example, in the commercial BRC breast cancer genetic screens where due to specifics of the mutations, a full half of mutations are typically not detected in the commercial screen.

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John McCarty, PhD
Director of Therapeutic Investigation
ALS Therapy Development Institute

Thanks a lot for the replies. Royalfig, I would be very happy if you could PM/e-mail me the full version of this text, thanks in advance!