SOD 1 N65S Mutation

[AKNate]

Hi All,

Yesterday my husband was diagnosed with a SOD1 mutation in exon 3, resulting in a N65S novel. The genetic's doctor said he has a mild case of ALS, so his condition is under the ALS umbrella but not the Classic variation.

He has been progressing very slowly and only in the lower limbs so far. He started noticing weakness in the lower limbs 4 years ago, he's 33 and can still walk without assistance however sometimes it is difficult for him.

I've tried to find some research online specifically related to SOD1 N65S but it's quite rare - I've only found some papers referencing a study on Italian patients and Spanish patients. None really saying what will happen in the future, life expectancy, is it localised or stablised. I know we can and will get answers from our doctors but i also wanted to see if anyone out there has been effect by this mutation too.

Any information would be greatly appreciated. Thank you.

 

[Nikki J]

I sent you a private message.

Sorry about your husband but have hope if he is slow progressing. Since you are in Oz are you looking into the copper trial? There is a time from onset limit but it might be diagnosis date rather than symptom onset. With a sod1 variant I would check into it

 

[AKNate]

Hi Nikki,

Thanks for your message and reply on the thread. I/We are completely new to this world so no I haven't heard of copper trials. I will def look into it now.

We were always worried that it could be a Motor Neuron Disease but all the doctors kept saying he doesn't clinically look like a candidate for MND/ALS because it started in his legs and is slow progressing. Also EMG's seem normal as well as another test he has done (i'm not sure of the name but they place a disk over his head and measure the electric currents that run through his upper limbs). Anyway, now that we know he has a mutation i'll be doing my research and speaking to people like yourself is really helpful.

I'm not sure if he has FASL or SALS yet because his parents haven't been tested. F is for Familiar and S for Sporadic, correct? I'm sorry i don't know all the terminology yet, I'm still trying to wrap my head around it all.

Anda

 

[Nikki J]

The other test is TMS I am sure. If both of those are normal he is in a kind of limbo and may not qualify for the trial. Is he seeing one of the MND specialists? Dominic Rowe is THE person to see I am told

There is a rarely used term GALS for genetic ALS but pretty much they lump those of us with a documented mutation as FALS

Did the information you found /were given confirm this SOD1 variant causes ALS albeit a slowly progressing variant?

 

[AKNate]

Duplicate reply. Appologies.

 

[AKNate]

You're probably right, i read up about the trial and you need to be submitted for it. My mother just sent me a link re: stem cell therapy in a Chinese clinic: I'll have to ask our doctor about that too.

He is seeing Prof Matthew Kiernan at Sydney Uni: Professor Matthew Kiernan - The University of Sydney Prof Kiernan get our letters forwarded on to Prof John Pollard too who is meant to be at the top of the game also. I haven't heard of Dominic.

Our genetics doctor said this SOD1 variant is under the ALS umbrella, however because of the gene that mutated in exon 3 it isn't the classic case of ALS. By pure genetic mapping, his gene can't transform into the classic case just because it's in a different location along the thread however the progression is unknown. I'm hoping our doctors will know more about it. This is the paper i found which references a SOD1 exon 3 N65S mutation: http://www.pubfacts.com/detail/1695...th-Sporadic-Amyotrophic-Lateral-Sclerosis-ALS

Anda

 

[Nikki J]

Although there is some promise in stem cell therapy which is currently in clinical trials please run! from the for profit clinics. There have been a number of people who pursued this to their sorrow

 

[AKNate]

Ok, thank you for the tip.

We did spend a lot of money with previous doctors and even had Lyme disease tested which isn't acknowledged in Australia - that cost $1500. You tend to get desperate and are willing to throw any amount of money for a solution.

 

[Nikki J]

There is unfortunately an endless supply of evil people who prey on those with MND. There are also people who are true believers in their unproven and sometimes dangerous ideas. You will need to educate yourself so you can make informed decisions.

I looked at the links to the professors. They seem very accomplished but Professor Pollard seems to specialize in MS?

 

[AKNate]

I've read about stem cell therapy in Russia too. We are seeing Prof Keirnan on Tuesday so hopefully he has some answers.

There are a few John Pollards, this is the one we saw years ago who said it could be MND: Professor John Pollard - The University of Sydney

Do you know if all mutations result in what the classic ALS results in? i.e. respiratory problems and full body weakness. I wonder if any have stayed localised.

Sorry if this is a personal question, but how are you going?

Anda

 

[Nikki J]

There are many many genetic mutations and of course some of them have nothing to do with ALS at all. I do not know of any of the ALS mutations that have a form that never progresses though some are very slow, others brutally fast. I am in no way a geneticist though. I have learned all I can about my mutation and along the way I have learned a little about other forms.

Thank you for asking about me. I have thus far been very slow progressing. i am lucky as my mutation can be very fast, very slow or anywhere in between.

Please take a look at lgelb's sticky posts at the top of the general forum and also on the Do I have ALS forum. One is on getting a diagnosis the other on second opinions and there is some overlap of content. They should help you prepare for your appointment and get the most out of it. Let us know what happens. Good luck

 

[AKNate]

Hi All,

So yesterday we saw the doctors and they explained a little bit more about the SOD1 N65S mutation (also known as N66S). It is rare and only a few cases in Italy/Spain have been reported. I can't find anyone in Australia (or this forum) with the same mutation.

They said that progression is as per ALS however slower. How slow, we don't know, we can only look at the cases i pasted above and also the speed in which my husband has progressed to date. He will also start taking the Riluzole.

Our doctors mentioned a trial from Japan which will be coming to Australia too - i'll need to find it to link to. It's based on high antioxidant intake which can also slow down progression. So everyone, start eating those kinds of foods! It may help.

Thanks Nikki for your advice, i'll look into those posts. Happy to hear your progression is slow too.

 

[AKNate]

This is the Japanese treatment: Story: Radicut® Approved for ALS in Japan | ALS Therapy Development Institute

 

[Nikki J]

Did they say it was definitely going to be trialed in Australia? It is approved for use in Japan. It is currently under consideration by the FDA ( US drug regulatory agency). We of course hope it will be approved without requiring further trials but no one knows yet

I am glad he is starting riluzole. As you may have been told it is supposed to extend life by 10 percent which is a big deal if you happen to be slowly progressing- not so much if you are average or fast. I have also been told repeatedly early treatment with it works better

 

[AKNate]

The doctors said it is in the works to get funding and approval for next year, so fingers crossed it does. I read it has been approved in Japan but you're right - no where else. I'm not sure how it works in America but in Australia we need the money to first purchase the drugs then to trial them here.

I didn't know the percentage, but 10% sounds good to me... anything is good right now! Yes, they did mention that early treatment is good too. The only thing that is holding me back right now is we will be trying IVF very soon (our appointment is end of Nov), so i don't want to medication to interfere with anything... However i haven't done my research yet so it most probably won't.

Also, i got our doctors names mixed up. John Pollard isn't part of the MND/ALS society, you're right, he is more inclined towards MS. We were referred from him to Prof Kiernan.