https://www.uclh.nhs.uk/News/Pages/Researchersidentifygeneticdefectwhichiscommoncauseoflateonsetataxia.aspx

[wobblybee]

🙂 Many of us are still in the dark as to the actual cause of our ataxia. A gene has been found that could be the answer for some of us. It could confirm the cause is genetic, but Recessive, which means it had been passed on by carriers (parents) who were unaffected themselves.

[sunvox]

Fascinating. Now the question becomes exactly how the mutation expresses itself. However, it seems more than likely that given the similarity of symptoms to the already known genetic forms of ataxia that there is a strong chance the mutation causes a mutation in a protein that mis-folds. It will be interesting to see what they find out.

Joe in NY

[ww-wibblywobbly]

Thanks for this update Beryl. Let's hope it gives a proper diagnosis to some of us.

Xxxx

[Jenandbeth]

Thanks for sharing, really interesting although not sure how my Rangers Football Club supporting husband will take a fault in my daughters RFC gene 🤣

[ConfusedAtaxian]

Interesting! Thank you

[suzie44na]

Thanks for sharing, I have waited 23 years for the right diagnosis and still hoping.

Suzie

[wobblybee]

🤔 Suzie, it’s a waiting game, we need endless patience. Like many others I was misdiagnosed, then a partial link was found, then I was thought to correspond to a specific type, then it was thought I should be tested for something else..but nothing happened. Still wondering, and hoping 😉

[benning]

I thought we ALREADY knew,It's the lack of some protein ISN'T it???

[wobblybee in reply to benning]

Hereditary ataxias

Some types of ataxia and some conditions that cause ataxia are hereditary. If you have one of these conditions, you were born with a defect in a certain gene that makes abnormal proteins.

The abnormal proteins hamper the function of nerve cells, primarily in your cerebellum and spinal cord, and cause them to degenerate. As the disease progresses, coordination problems worsen.

[PatsyIpswich in reply to wobblybee]

and of course our ancestors died much younger so didnt live long enough to develop any late onset symptoms [in many conditions]

[Plain in reply to wobblybee]

Thank you, found your post very interesting I have heredity Ataxia, from my Dad, and find getting older it’s getting worse, just like my Dad.

Do try to stay positive and do something that makes me happy and smile, knitting listening to audio books, love Agatha Christie and Peter James. Take care, look after yourself.

[Grapes12]

Thank you for sharing. Hopefully it will give all us some much needed answers.

[1940girl]

I have just been diagnosed with CANVAS which is genetic. All my children are carriers of this gene, but fortunately the chances of them getting it is unlikely as both parents have to have the faulty gene.