Sca 6

[lola261184]

Is sca 6 slow progressing over years. My partner family seems to get it in their sixties

I've heard there is no anticipation either so hoping my partner will get it later in life x

[Cuds]

Hi lola,

There are more than 20 types of SCA and the number just represents the order in which a specific type of spinocellebellar ataxia was linked to a specific chromosome. SCA 6 onset is later 40s-50s but the progression is very slow. That's what I have read but the neurologist should be able to clarify and monitor that.

Hope that helps.

[lola261184 in reply to Cuds]

This is what I'm hoping . What do they mean by slow tho might sound silly question x just feeling really confused at the minute

[Cuds in reply to lola261184]

Research shows the average for SCA 6 is greater than 25years from diagnosis so if your partner's family history is getting it in their 60's then lifespan is pretty good. Slowly progressing just means that there are no sudden dips and the disease gradually worsens over a period of years. I have copied a section on 'anticipation' for you to help explain that.

"Anticipation refers to an earlier age of symptoms and increasing severity of disease from generation to generation in a family. In other words, an affected child can have more severe disease symptoms than his or her affected parent. With the recent discovery of the genetic cause of many SCA types, the biologic basis of anticipation in these conditions is beginning to be explained. It has been found that the repeat size can change when passed from parent to child. For example, if a parent has a specific repeat size on genetic testing, a child may have a larger number of repeats. Anticipation cannot be predicted."

Has your partner been tested for SCA? If not then you may wish to discuss this with him and a genetic counsellor as this will also help you to address your concerns and provide some support.

Good luck!

[lola261184 in reply to Cuds]

Yeah but he has no symptoms yet just had test. I've heard a lot that anticipation doesnt happen in sca 6 so hoping this is the same.

Do you think they will find a cure at some point. So much worry for my little boy and if to have more future children. Hoping to see gentic counsellor soon thank you x

[2Sunny]

Hi Lola,

Has your partner had a genetic test and do you know the number of repeats. Knowing that information allows one to predict a range of onset. More importantly I just read up on the pathology of SCA6

ghr.nlm.nih.gov/condition/s...

It appears SCA6 is one of the ataxias where protein aggregates play a role and hence I would strongly urge your partner to read all the research I provided and take it to their doctor and decide if eating trehalose everyday might not be worth trying.

Based on the research I list below as well as real world experience of people already doing this, It is my genuine belief that if genetically positive but asymptomatic ataxia patients eat 3-4 Tbs a day of trehalose everyday they can greatly delay and maybe even prevent the onset of symptoms.

The other supplement for which I provided information is Niagen. It is very new and doctors are likely to scoff at trying, but Lola . . . I am better, my father is better, and my aunt is better. We are all now eating 375 mg a day of Niagen. I believe the research is clear Niagen improves cellular repair. There is no doubt in my mind Niagen can help restore damage caused by mutant ataxic genes. Again, I would urge you to print and read all the research and bring it to your doctor! An important point to express is that Niagen is unlike prior NAD+ activators because it has no serious side effects AND it is a SIRT1 ACTIVATOR not a SIRT1 inhibitor. The role of SIRT1 is increaslingly being recognized as critical in many neurodegenerative disordersl

Best Wishes

Joe

P.S. There are many, many Niagen fakes so please be careful if you decide to give it a try. Here is a link to the original manufacturer.

prohealthspan.com/

Trehalose research:

pharmacychoice.com/News/art...

academic.oup.com/hmg/articl...

link.springer.com/article/1...

link.springer.com/article/1...

jbc.org/content/285/43/3325...

ncbi.nlm.nih.gov/pubmed/272...

Niagen Research:

nature.com/articles/ncomms1...

ncbi.nlm.nih.gov/pubmed/277...

ncbi.nlm.nih.gov/pubmed/279...

ncbi.nlm.nih.gov/pmc/articl...

academic.oup.com/hmg/articl...

link.springer.com/article/1...

[lola261184 in reply to 2Sunny]

Thank you I did read your post about trehalose and have mentioned it to him . Seems really good x Thank you I'm just so scared and confused. Thank you for all your help. I'm hoping my partner will take after his mam x

[Cuds in reply to 2Sunny]

Hi Jo,

it looks like the link to purchase Tru Niagen only allows purchases from the United States - it is the only drop down country to select and it doesn't let you write UK. Perhaps there is a restriction on its distribution - in the same way as certain supplements can't be shipped to France e.g black cohosh!