Hi, my name is Roman from Slovakia, I’m 26 years old and 9 years ago I was diagnosed with hereditary episodic ataxia type 2, CACN1A mutation with hemiplegic migraine.
Who has found this diagnosis and what to give effectively? It is exacerbated by stress, caffeine, alcohol or physical exertion.
Does THC or CBD help marijuana?
I’ve already thought about gene therapy, it’s already in progress and it would stop seizures.
Thank you for your answer and advice from you.
Hi Roman, welcome 
Yes, the triggers you mention can make things worse with a diagnosis of EA2. It isn’t the same for everybody but it is a good idea to avoid them if your EA2 is especially challenging. Many people are prescribed Acetazolamide for EA2.
Medical CBD isn’t generally available, here in the UK it’s restricted to children challenged by specific Epilepsy, and some cancer patients. But elsewhere ataxia patients have reported trying it with varying results.
Gene Therapy may prove to be the way forward, time will tell, but at the moment it isn’t approved as a therapy for ataxia.
My own symptoms have been linked to EA, but as yet I don’t correspond with current findings. Stay safe
I am taking acetazolamide, but it does not work completely for seizures. I read that for EA2 4-aminopyridine or acetylleucine also helps. I don’t know what would help better.
The worst thing is that at this time it is difficult to avoid stress, which is the trigger of the disease.
www.ataxia.org Medications for Ataxia Symptoms suggest…
Episodic Ataxia type 1: Carbamazepine, Phenytoin
Episodic Ataxia type 2: Flunarizine, Acetazolamide, and 4 aminopyridine
But, 4-AP can be difficult to get prescribed, it isn’t always approved for ataxia (not in the UK) it can very much depend on where you live, or your Neurologists opinion
Years ago I was misdiagnosed with Epilepsy, I’d had 1 seizure in my sleep, and daytime Deja vu episodes, Carbamazaphine, and Sodium Valproate didn’t help with Deja vu and made me feel worse.
As far as I understand, generally Acetyl-leucine is said to help with dizziness. (Although I recently posted info re results of a trial for Niemann Pick Type C). Again this is something that can be difficult to obtain, if I wanted to try it I’d probably have to have it shipped from a Pharmacy in France.
Do you have a Neurologist who specialises in Ataxia Even here in the UK it can be difficult to be referred to someone who has experience, I was misdiagnosed for many years despite accumulating symptoms that didn’t correspond with Epilepsy, it was only when I started having falls that I was sent for further testing.
When I was first diagnosed my stress levels were very high, the Neurologist recommended taking Sertraline, which really helped.
Thanks for the longer reply.
I also take Sertraline Actavis. It also had an anti-stress effect on me.
Flunarizine and Acetalozamide were prescribed for the test. I ordered acetylleucine from France, but I haven’t tried it yet.
What could be more effective? Acetalozamide or 4-aminopyridine.
Are there changes in the brain / cerebellum in EA2 or is there only a gene error (CACNA1A)?
Because on the outside a person is healthy and without seizure a person is able to do everything.
Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. Attacks can be associated with dysarthria, diplopia, tinnitus, dystonia, hemiplegia, and headache. About 50% of individuals with EA2 have migraine headaches.24 Feb 2003
www.ncbi.nlm.nih.gov › NBK1501
EA is poorly understood, even within the ataxia community. The problem being between episodes the patient can carry on as normal.
Diagnosis is confirmed by testing for the gene, along with a history of symptoms. Cerebellar Atrophy is not always present.
Re the question of medication… Given the choice, I would stay with the one more likely to prevent seizures. Acetazolamide is the drug of choice for many Neurologists, it could very well depend on the dosage as to whether it proves effective, but then it won’t be the right anti epilepsy drug appropriate for everyone diagnosed with EA2. 4-AP is not associated with preventing seizures.
Acetazolamide is the pharmacological treatment of choice for EA2; a dosage between 250 and 1000 mg/day is usually effective.19 Acetazolamide 250 mg/day could fully suppress EA episodes in our EA2 patient. Alternatively, 4-aminopyridine can be used. Other drugs, including dalfampridine, have been proposed as potential treatment options, but further studies are still needed.19
Copied from www.ncbi.nlm.nih.gov
The National Ataxia Foundation (www.ataxia.org) provide a list of medications they suggest appropriate for ataxia symptoms. 4-AP is suggested for dizziness and vertigo, and Nystagmus.
