Idiopathic ataxia or unknown cause.

[penelope2]

Hi all. I urge anyone who has not yet been diagnosed with a particular type of ataxia , so idiopathic of unknown cause, which means they do not know what is causing it. To contact Sheffield and see if you can participate in a new study into gluten ataxia. Although a gluten free diet will not cure ataxia it may stabilise symptoms for you.Please read wobblybee's post for more info.

[Cupcake12345]

I was referred to Sheffield from London ataxia centre. Sheffield concentrate more on autoimmune conditions and London genetics. They do tests in Sheffield that London don’t so it’s worth going for this reason. I was put on a gluten free diet first and it was not making much of a difference so then they gave me immunosuppressants which helped a lot. They call this PACA (primary autoimmune cerebral ataxia), which they use to label and treat idiopathic ataxia’s. I’m still on a gluten free diet and immunosuppressants but at least the ataxia is stable now. It’s worth being seen in Sheffield this I can’t emphasise enough.

[penelope2 in reply to Cupcake12345]

Thank you and best wishes.

[7151 in reply to Cupcake12345]

Hi i might have already replyed but after many years of scans even à lumber puncture i ve got à médical name that chages nothing there is no cure ( Just kini in à gréât clinique that works well )

[Frenchoak]

I've been diagnosed with Idiopathic cerebellar Ataxia, but have had a test locally for GA which was negative , so there's no point in me getting involved in the research is there, although my consultant Neurologist has referred me to Sheffield anyway but II'm still waiting for an appointment . I wonder why .y consultant referred me there instead of London which is easier for me as I live near Bristol. He said because waiting time shorter ?

I'm likely to have some sort of genetic mutation that they can't test here, if at all. Should I be going to London instead??

[penelope2 in reply to Frenchoak]

Hi, London deals mostly with hereditary/genetic ataxias. To date they do not have the TG6 blood test for autoantibodies that will pick up gluten ataxia. London referred me to Sheffield when the genetic tests came back negative. TG6 is only available at Sheffield and you need to question your neurologist what tests you have had. Blood Testing for coeliac disease will not pick up GA. The coealic test only picks up about 2/3 of coealics anyway. Perhaps they have found inflammation because of autoimmune?Sheffield will also test for an hereditary type. It is run by Professor Hadjivassiliou who is world renowned for his expertise in autoimmune ataxias. And well worth the journey to see the best in the country for GA.

It is best you contact Sheffield, see wobblybees post for details, to put your mind at rest.

With ataxia we owe it ourselves to research and arm ourselves with as much knowledge as possible. We have to do this as the medical professionals know so little about ataxia.

Good luck with your search for an answer.

[Frenchoak in reply to penelope2]

Thank you 😊 for your information. I'm going to go through my file of letters to establish (or try to!) what tests I have or haven't had done & make a list. After that I'll ring Sheffield to discuss the research & see where I am on their waiting list. Yes, you're right, information is power, but I've got a bit confused about things now as it's SO complicated 🤔 and has been going on since a GP took my symptoms seriously in November 2021. Symptoms since 2019 but I kept getting dismissed by various GP's - one told me it was my varifocals (no as I'd been wearing varifocals 10 years or more!) & to get my eyes tested! When I asked another GP to explain what Cerebellar Atrophy "meant" on my CT scan result, he told me to "Google it"! I should've complained, but didn't have the energy at that time.

[penelope2 in reply to Frenchoak]

Thanks, I'm glad you found that helpful. Yes the whole thing is complicated and I relied the doctors too, it took someone with ataxia to tell me about gluten, that was back in 2020 and l have been reading and researching since then.Best wishes.

[Frenchoak in reply to penelope2]

I listed out all my test results......I've had a test called Anti-TTG antibodies, which I think is a test for celiac disease? Would this show anything about gluten? What test for GA do they do please? 🤔

[penelope2 in reply to Frenchoak]

Hi, sounds like TG2 which is for coeliac disease caused by gluten too. It is different to GA, effects the gut rather than the cerebellum but involves gluten too. TG2 will not pick up autoantibodies for gluten ataxia which is the TG6 test and only is available at Sheffield Ataxia clinic. Now at the Leeds hospital too and heard recently that someone's neurologist requested this and the bood test was taken and then sent to Sheffield for a diagnosis. The T stands for transglutaminase. TG2 test only picks up 2/3 of coeliacs anyway and then followed up by a gut biopsy. So maybe this needs to be questioned? Which one did you have? At a local hospital then it must be the test for coeliac. Unfortunately there are a lot of 'old school' neurologists out there who don't believe in gluten causing ataxia.My local neurologist years ago tested me for coealic, it was negative and he said that it can't be gluten ataxia!!! He didn't believe in it.

Found out later his daughter was coeliac!!!

Search Professor Hadjivassiliou and TG6 there is lots of research.

If I knew then what I know now I would have questioned this.

Glad you are looking and researching, knowledge is a good thing.

If you have gluten ataxia then time is critical for diagnosis.

Good luck with your journey.

[Frenchoak in reply to penelope2]

Tested at local hospital, so probably celiac test then. I've chased up my local Neurologist as it's gone past the 6 months review time, his Secretary replied with am appointment on 29th August . wish I'd chased earlier! Have also asked him about Sheffield research participation.......might speed up referral to Sheffield, never know!

[penelope2 in reply to Frenchoak]

👍

[wobblybee]

I’m in Newcastle..but I was tested several years ago for Gluten Ataxia, and found to be negative…although I do find I have a ‘sensitivity’ to gluten if I over indulge..and consciously make an effort to avoid it as much as possible.

Just recently..I had a letter from my Neurologist about recent testing. I’d been put forward for Whole Genome Sequencing…..there was no link with any finding of genetic ataxia.

[penelope2 in reply to wobblybee]

Hi wobblybee I have been signposting to you for your post on Sheffield and a new study on GA, hope this is OK.

The facts to date:

Only Sheffield, and Leeds hospital now, has the TG6 test for GA. This is one marker they use to get the whole picture of cause of ataxia and interpretation of results.

A specialist spectroscopy MRI is only available at Sheffield.

This expertise is only available at Sheffield

With regard to Whole genome sequencing, I will be surprised if that picks up GA. Susceptibility to it yes as in the genes to make this more likely.

The London clinic's expertise is in hereditary and genetic ataxia but they should pick up inflammation.

London will.refer you to Sheffield if you ask but all neurologists will refer you if you ask.

Personally if I was you then try a 100% gluten free diet for several weeks or months even to see how you feel.

I am gf, df and now trying grain free too, this is similar to a Paleo diet and very restrictive. But the earlier symptoms of ataxia were coming back. Perhaps my age or maybe because I have eaten gluten all my life with digestive symptoms that I didn't realise and was not told there is a link and the damage is done. Gps just love to write prescriptions rather than doing joined up thinking.

Best wishes.

[wobblybee in reply to penelope2]

🙂I was referred to Queen Square, in London, by my Consultant Neurologist a few years ago, and after appointments there ..they referred me to an ENT Specialist in London.

🙂It was Queen Square who recommended Whole Genome Sequencing.

[Jessie70]

Hello Penelope, I was diagnosed in May, 2019 with Cerrabellar ataxia-cause unknown-no known treatments and no cure. I have been on a slow decline for decades. I live in America and was surprised by the neurological team at every single hospital. I live near Chicago so I went to Rush, Northwestern, and our local hospital, Good Samaritan. The second ataxia was mentioned I noticed long, white coats leaving my general area. I have no illusions of my health improving but I am completely discombobulated by the lack of information about this disease. One example that bothers me greatly is the fact that I am 0.1% of the population of North America that has this disease. I can barely remember my basic math facts. I asked a friend who is mathematically gifted to explain what exactly this meant. After a few calculations he explained to me that I’m one of seven people that has this disease. It’s a mathematical probability. I’m not satisfied with this information. Sadly, I can’t find any information about my ataxia. My GP is the only decent doctor I continue to see. I appreciate her honesty. It’s so refreshing to hear a doctor say “I don’t know .” That is a very rare skill for a doctor. I noticed that when people from the UK post here they have SOOO much more information. I guess the obvious question is how can I possibly be only ONE OF SEVEN? Have a great day and I look forward to your reply!

[penelope2 in reply to Jessie70]

Hi Jessie. Here in the UK figures are not kept too, probably because it is a rare disease. But here are a few numbers I have come across but who knows if they are accurate? All estimates!1 in 10 has a gluten related condition.

1 in 100 has coeliac disease.

In the UK 10,000 have ataxia out of a population of 65 million so about 1 in 6500.

So a lot more in the US.

There are about half the number of people with motor neurone disease.

The scientists and pharma companies have yet to find a "cure" for hereditary and genetic ataxias.

There will be little financial gain for pharma cos with diagnosed GA.

It is estimated that there are more people with gluten ataxia than hereditary ataxia.

Up to 40% of idiopathic ataxias may be GA.

On a personal note because you have nothing to lose and there is no medication involved, have you tried going gluten free?

It has to be 100% and no cheating for at least 6 months. I know this is hard and difficult to stick to but it just might be worth trying.

It is the best thing that I have ever done for myself! At the very least you are being proactive.

The Sheffield Ataxia Clinic only see patients from the UK.

Good luck.

[Jessie70 in reply to penelope2]

I’m a little confused. Apologies. Ataxia is more common in the United States? Most physicians I have seen have never heard of cerebella ataxia That’s what is so damn frustrating! I’m trying to advocate for myself but it’s difficult because I don’t understand it! Can you please explain what Dr. Garg expects me to accept? 1/7 people- ONE! Also, if my brain is such a rare commodity-WHY wouldn’t a neurologist want to understand more about this disease? I’m grateful for this online community. I can’t complain and question everything with anyone because NOBODY knows about this disease. The United Kingdom has an ataxia hospital or whatever it’s called. Like I said doctors are fleeing from me and I have learned NOT to go to the hospital for anything but broken bones. I just end up in the psych ward and I fuck around with other doctors patients. I’m usually released b/4 the 48 hour hold. All fellow patients questioning their own meds and refusing to take them. That’s what they get for not taking the time to understand I also have ataxia and just because they NEED to examine, diagnose and treat, I get sent to the ward. Someday they’ll learn that while practicing medicine.

This is the letter I received and then I was dismissed.

[penelope2 in reply to Jessie70]

I am not sure but I think they are saying you might have a genetic/hereditary type of ataxia. Apologies I thought you were saying that you had idiopathic ataxia which means they don't know what caused it. I do not know about hereditary types, did your parents or close relatives have ataxia like symptoms?

[Jessie70 in reply to penelope2]

My diagnosis is cerebella ataxia, cause UNKNOWN, no known treatments, no known cure. I’m going on my 6th year of being home bound I try to research but I’m getting nowhere. I honestly don’t understand the letter but I have 3 adult children. I was adamant about finding out if it was genetic. It is not. The closest they got was a group in the Netherlands and those scientists and physicians were extremely clear that I didn’t meet the criteria for their genetic ataxia. My uneducated guess is head trauma. I know my life. I guess it’s the dismissive attitude that pisses me off.

[penelope2 in reply to Jessie70]

Ataxia whatever the cause is #### ##My thoughts are with you.

[penelope2 in reply to Jessie70]

The numbers are probably similar percentage wise. So all types of ataxia added together then approximately 1 in 6500 if the numbers are similar to the UK. It is estimated that 10,000 people have ataxia in UK. Though these numbers are only estimations are it is my maths so it could be wrong?