Diagnosing and treating primary autoimmune cerebellar ataxia (PACA)
Many people with ataxia are not given a specific diagnosis for the cause of their ataxia. This is known as idiopathic ataxia.
In two new publications, Professor Hadjivassiliou (below) at the Sheffield Ataxia Centre, and his colleagues, describe a type of ataxia that could
be responsible for a number of idiopathic ataxia cases. They explain how neurologists can make this diagnosis and how this type of ataxia can be treated.
Immune-mediated cerebellar ataxias are caused when the body launches
an unnecessary immune reaction against the cerebellum (the balance centre) causing damage, resulting in ataxia. Gluten ataxia is an example
of an immune-mediated cerebellar ataxia. In patients with gluten sensitivity, the body recognises gluten as harmful and produces antibodies against it. These antibodies travel to the brain and attack cells of the cerebellum, which results in ataxia. In this case, gluten is known as the ‘trigger’. However, in some cases of immune-mediated ataxias, the trigger is unknown, which is when the condition is called primary autoimmune cerebellar ataxia (or PACA).
DIAGNOSING PACA
There is no specific test that will definitively diagnose PACA. However, an International Task Force on immune-mediated cerebellar ataxias, of which Prof Hadjivassiliou is the lead, have written a comprehensive list of clues that neurologists should look for when considering the possibility that a patient has PACA. A diagnosis of PACA can be made if certain criteria outlined in this document are fulfilled, and if an experienced neurologist or ataxia specialist has ruled out other possible causes (such as genetic ataxia).
A TREATABLE FORM OF ATAXIA
In the second article, the team from the Sheffield Ataxia Centre describe
a possible treatment for PACA. They treated 22 PACA patients with an immunosuppressive drug called Mycophenolate, which reduces the immune response that causes the ataxia. This treatment is expected to prevent further damage to the cerebellum and salvage any sick cells. Their results using brain scans and ataxia rating scales showed that those receiving treatment improved or stabilised, and those who did not got progressively worse.
Prof Hadjivassiliou said: “Identifying patients with PACA is incredibly important to allow them to receive the appropriate treatment, and early diagnosis could prevent permanent neurological damage.”
If you have been diagnosed with idiopathic ataxia and would like to explore the possibility of PACA, we recommend you speak to your neurologist about these new publications. If you do not see
a neurologist regularly, email help@ataxia.org. uk for details of Specialist Ataxia Centres.
Hi wobblybee, this is me, I don’t have a proper diagnosis. I see this professor at Sheffield and he has told me I have ataxia, but I still do not know why. I had an MRI spectroscopy which did show ataxia. I am awaiting more genetic testing, so here’s hoping. It would be great if there was a cure.Suzie
My MRI showed Cerebellar Atrophy and like you I don’t yet have a definite diagnosis, although my actual pattern of symptoms raised interest in specific testing..so if testing is offered I recommend taking it 🙂
At this year’s National Ataxia Foundation Convention, an eminent Neurologist said she was confident there would be several treatments for ataxia within the next 5yrs..🙂
We know Research is constantly ongoing, yes it would be great if there was a cure 🙂
🙂In my case..I have a history of chronic eye problems, Vestibular issues, a misdiagnosis of Epilepsy and a pattern to symptoms.
I’ve been specifically tested for types of Episodic Ataxia, and CANVAS (Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome). That’s a mouthful isn’t it 😂 Testing was negative but my DNA is kept to check against future findings of Episodic Ataxia.
Thanks for the reply. At the minute I think they are testing me for autoimmune disease and I am waiting for muscle biopsy to test for mitochondrial diseases. In the family we have a lot of autoimmune disease. My brother also has tremors like me. They have said that we have a faulty PNKD gene, but they reckon it is not the cause of our problems, but who knows.Suzie
🙂 Family history can be so helpful when making a definite diagnosis ..but it’s not unknown for De Novo Mutations (new mutations of the gene) to cause delay ..
I have not had a definitive diagnosis but have deteriorated so much since the symptoms started in 4 years I can no longer take a step. The London Ataxia Centre have been looking after me but last year referred me to Sheffield. They have been amazing, the tests they have done are MRI, MRI spectroscopy, lumbar puncture and gut biopsy and blood tests (of which they do some that are not done in London).
All tests were negative except the MRI showing severe atrophy and the blood tests showing gluten antibodies. They are doing another MRI in March to see if a gluten free diet is slowing progression, they may put me on immunosuppressants as well.
🙂It sounds very thorough..I was referred to London from Newcastle, and then back again after testing. Specific Specialists seem to be based at certain hospitals, i would travel to Sheffield if the opportunity came up.. 🙂 Best wishes, you’re in the best place to be investigated for Gluten Ataxia, and keep us updated if they choose immunosuppressants.
I did go online to ask your GP but the response was try again another time. So I emailed the wrong hospital for attn of my neurologist with all ref details.. hospital number, nhs number etc and now awaiting response.. watch this space x
Thanks for this, B. This is possibly the most promising research information I've read in a long time, and at least to this layman's mind, makes sense.
Update on my experience.. I wrote to neurologist via hospital website and received letter from him today.He doesn't think PACA is relevant to me but is going to contact Dr de Silva who diagnosed me to ask his opinion. I will post update when I hear more.
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