Autosomal Recessive Cerebellar Ataxia type 8 (ARCA8)

[edfosho]

Last year I was diagnosed with autosomal recessive cerebellar ataxia (ARCA). Specifically, I've got a SYNE1-related spinocerebellar ataxia - or ARCA8.

Reaching out to see if there are any other ARCA8 patients?

I understand there's many types of Ataxia (and I've been involved with several ataxia support groups and Ataxia UK), but I'm specifically looking for someone with a similar ataxia to me.

Thanks all.

Ed

[wobblybee]

🙂 I’ve seen only a few mentions of this on other support groups..but I don’t recall seeing any here..

Try National Ataxia Foundation on Facebook

Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene.

[edfosho in reply to wobblybee]

Thanks for the reply, useful to know - yes I'll paste in NAF on Facebook.

Interesting - you mentioned "ARCA1/SCAR8"

I have recently been emailing someone at Ataxia UK in research and they mentioned it can get confusing as some inherited ataxias get referred by different names/acronyms.

What does SCAR stand for?

My diagnosis letter from London Ataxia Centre says:

"Oxford Genetics: SYNE1-related spinocerebellar ataxia (ARCA8) (compound heterozygosity for a pathogenic SYNE1 nonsense variant and a pathogenic SYNE1 frameshift variant)."

Sorry, even more confused now. More confused day by day 😆

[suzie44na in reply to edfosho]

Hi, I think SCAR stands for, Spinocerebellar Ataxia Autosomal Recessive.

[wobblybee]

🙂 I agree..if the same terminology-definition was used it would be helpful to those of us looking for information about our diagnosis. Of course it’s so easy to misinterpret medical terms (especially if you’re a lay person) we probably shouldn’t rely on what we find, but once you’ve got the bit between your teeth and have some understanding ..it becomes interesting 🙂

I agree with Suzie..

malacards.org/card/spinocer...

I have something like a 70% link myself with SYNE1 ( I only know this because I donated DNA for a specific Research Programme) ..but my Neurologist has dismissed it. Although she did speculate that my type could be Recessive, and I should have further testing.

🤔 There are so many complaints that Neurologists don’t explain ataxia ‘sufficiently’ to their patients when making the diagnosis. I agree but..at the time I was diagnosed...if I’d been given too much information about ataxia I probably would have panicked..it’s just too much to comprehend.

[edfosho in reply to wobblybee]

Ah I see, thanks for that link. I will ask more questions about it when I next see the neurologist (September).