I was diagnosed with progressive cerebellar ataxia in January. So far I’ve had an Mri, dat scan, lumbar puncture and bloods for genetics, autoimmune and toxins. Next I’m to get a full body ct and a NGS ataxia panel.
My neurologist rang on Tuesday to let me know that it was probably a genetic cause but even if it was found it was unlikely to be treatable as the treatable causes had come back negative. I had asked if a specialist centre would help and he didn’t think so.
I would like to know your experience. I’m in Northern Ireland but would be prepared to travel to Sheffield or London. What do you think? If you think a referral to a centre would be beneficial is there a difference between Sheffield or London?
Thanks for any help you can give
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Sea_
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🙂 I’ve been seen at 2 Accredited Ataxia Centres in the UK..Newcastle (now closed) and Queen Square in London. I haven’t had the extensive testing you mention, but I have had testing related to my specific symptoms, and so far no link has been found.
I’ve been told that it’s likely my specific symptoms are linked to a genetic cause because some started in childhood.
At the moment I’m waiting for results of Whole Genome Sequencing but..there’s still a possibility no match will be found.
My diagnosis is Idiopathic Cerebellar Ataxia.
🤔 Your Neurologist has done extensive testing without a link being found..you could ask for Whole Genome Sequencing to be done where you live, before you’re added to a long waiting list at the ataxia centres.
It’s likely that each ataxia centre has specific specialists, I was referred to London from Newcastle….when Sheffield would have been nearer.
🙂Have a talk with your Neurologist…, hopefully results of your next testing will give an answer.
Thank you I’ll ask him about the test and again about London. I’m getting a full body ct with contrast on Thursday to rule out tumours although already been told it would have happened within months rather than a couple of years x
Hi, as far as I understand UCLH in London is more based on the genetic/hereditary types of ataxia, while Sheffield deals with the autoimmune types.UCLH referred me to Sheffield after testing and nothing significant was found. It was good advise to talk to Ataxia UKs helpline, they are very knowledgeable and will point you in the right direction.
Be prepared for a long wait at either ataxia centre though, the NHS wheels turn very slowly.
Also, dare I say, some neurologists are not very knowledgeable about ataxia, but you may be lucky. Also some tests specifically for ataxia and diagnosis are only available at the two main ataxia clinics.
Do as much internet research as you can as this will help you in face to face appointments, asking the right questions may speed up a diagnosis for you.
Hi Sea Unfortunately there is no cure, you just have to adapt to your circumstances and what you can/can't safely do.
I was diagnosed with cerebellar ataxia in 2006, I too have had numerous bloods taken for genetic reasons over the years, with so far inconclusive results. My cerebellum is less dense as shown on numerous MRI scans. Although thankfully it shown slow progression. Until 2010 I was pretty much unaffected, being able to still ride my mountain bike, run etc...
However since 2015 symptoms have definitely progressed where I use a walker or a shopping trolley for support if walking any distance unaided.
I regularly attend the UCLH in London to monitor progress and support.
I retired from work in 2020 and TBH it was a relief as in hindsight it was getting far to difficult for me.
Can't stress enough to focus on what you can do and not what you can't also diet and exercising, cardio, strength and balance exercises all help.
I wish you luck in your journey, if there is anything positive for you it was being diagnosed later in life wheras I was 37 and very active.
Sadly there are no cures at the moment…but treatment or a change of diet can make a difference to a few specific types of ataxia. It is important to be tested by a Neurologist.
There are medications that can be tried to help with various symptoms.
🙂 A big breakthrough recently has been Skyclarys…specifically formulated as a treatment for Friedreichs Ataxia.
🙂Tracking progress of the development of Ataxia therapies.
The pipelines are visual tools that were created to show the progress of all Ataxia therapies that are currently being developed. There is a pipeline for each type of Ataxia that currently has therapies in development.
Scroll down and click on specific types to view progress
you are lucky to have such a thorough neurologist mine is a useless. Ive had the mri and lumbar puncture and was diagnosed with cerebella’s ataxia. I also had genetic testing done 3 years ago as my mum had similar problems and so does my daughter but a year after they had been done he didn’t have the results and made a feeble excuse. The the last two years I’m supposed to have a telephone review but the consultant has never rung and it’s impossible to get thru to him in the department as the phone just keeps on ringing. I know my ataxia has progressed and am falling frequently now and have even broken bones andneeded surgery due to one of the falls I’m asking to change hospitals and ,hopefully they will be better at it tand this one. Which in all honesty they couldn’t be any worse
I was diagnosed with cerebella ataxia in May, 2019. I always knew something was wrong with me but I took the loooong way to get a diagnosis. I do physical therapy every week and massage therapy every 2-3 months. My exact diagnosis is cerebella ataxia, cause unknown, no known treatment and of course no cure. I have been back to see my neurologist team about 6 months after the diagnosis. They were SHOCKED! I asked them, “why does everyone look like a cartoon?” One neurologist replied that she was taken aback when I walked into the office. She was expecting me in a wheelchair. They’re still trying to figure it out but they won’t find anything genetically wrong. I’m 53 soon to be 54 in June. I’m not an expert. I have zero medical knowledge but I can only share my experience. I stretch 2-3x a day. I lift my little 5 lbs hand weights and 15 lbs. I used to be a runner so this sounds pretty wimpy but everything helps. If I have someone home, we walk together in the neighborhood. I don’t expect anything else from these doctors that have clearly stated that they are completely perplexed by my diagnosis. Keep moving if you can and don’t sleep too much-force yourself if you have to and remember that you do lose it if you don’t use it. I’m going on 5 years and little has changed since May, 2019. Find something you enjoy doing. Being home alone used to be a dream when I was working full time. Now, it’s just boring.
I really appreciate it I’m now frightened of the wind that used to give me joy but have got back in the pool with my 4 wheeler and going to hopefully swim again just need my cordination to remember . Hard when you were so active isn’t it but where there’s a will there’s a way
Finding a way to do the things that give you joy xx
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