Familial ALS (FALS)

[wurzel]

Familial ALS (FALS)?

Hello,

I'm sorry if this is not the right place to be asking this question. Not thinking straight at the moment. Found out yesterday that my Mum may have ALS

As far as I'm aware my uncle passed away about 6 years ago after suffering from ALS. My Mum (his sister) has started showing all the signs of ALS and we are currently waiting for an appointment with a specialist. My sister has also started showing symptoms

From the information I've found online I understand that around 5% of people with ALS have hereditary ALS (FALS) and there is a 50% chance of passing the gene on to your children ?

Could anyone please tell me the percentage of people that have the gene that go on to develop ALS ?

Sorry for being so ignorant. This is all new to me

Thanks

 

[Alyoop]

Re: Fals ?

I had a look to see if I could find data. There are many different gene mutations that can cause ALS. The one that is most talked about is the SOD1gene. You can be tested for it.

Here is a statement I found that may be useful. but research is still continuing with some reasearches thinking that All ALS may have a "faulty geneTic " component.

"In 20% of the inherited type the genetic mutation is known (superoxide dismutase-1) and it is inherited from generation to generation in an 'autosomal dominant' fashion - this means that, in this rare form of ALS, if one parent is affected, there is a 50% chance that a child will be affected.

in the other 80% (of inherited ALS) the cause is unknown, and therefore the inheritance pattern in unknown, although a lot of research is being done in this area.

If only one family member is affected, the odds are very stacked in your favor that the disease will not be inherited "

This forum is a supportive place to be, so feel free to ask anything, and people will do their best to help.

Aly

 

[wurzel]

Re: Fals ?

Thanks for replying so quickly and thanks for the advice

Best wishes

 

[wurzel]

Do all people with the faulty SOD1 gene go on to develop ALS ?

 

[Alyoop]

I will ask my hubby when he wakes up (hes a dr) and get back to you. Goos question, I am not sure why I have never asked him as he wants me tested.

Get back Aly

 

[Alyoop]

His answer was not much help "i don't really know, but I don't think so". He does not specialise in MND but general Neurology.


Sorry Aly

 

[smfarr]

Hi! Perhaps I can help? I am not a doctor, but my husband's family is a familial ALS family. To answer your question, " Do all people with the faulty SOD1 gene go on to develop ALS ? " - the answer is "yes...if they live long enough". I attended a fALS seminar recently and that question was raised. The answer was that leading ALS doctors are believing that if there is a mutated SOD1 gene (there are a few variations of the mutation they are looking at) - then there is an overwhelming chance that the person will develop ALS. However, the real question is WHEN. Most fALS develop between 45-65 (at least in our family). There have been a few cases of people under 40 developing it. There are a couple older people in the family that we know carry the gene that are in their 70's and even 80's who have not yet developed symptoms. A previously used statistic is that 80% of fALS will develop ALS by age 80. Probably a rule of thumb, but seems to work on our averages.

SOD1 is only one of the known mutations. ALSTDI put out their recent list at their leadership summit of others. Making Connections - Familial ALS: Genetics of ALS

We have a fALS support group and there are a couple studies out there if you are interested. Hope this helps!

 

[manwithaplan]

hiya, perhaps i can shed some light - i have a sod1 mutation as had 4 of my cousins, my father and 2 uncles all from the same side of the family. as it was explained to me, because my father had mnd sod1, i had a 50/50 chance of having the sod1 mutation also - and tested positive 4 years ago. if positive, i had a 50/50 chance of having mnd - and was diagnosed last june though symptoms started in january - a single persistent twitch in the upper left arm.
my brother however tested negative to sod1 and therefore has the same chance as anyone else of having mnd - about 2 in 100,000
hope this helps