Cerebellar Ataxia

kcagent007 · 09-02-2008, 11:32 PM

Quote:

Originally Posted by rhartn

I very sorry to hear of your brother's condition. Has he gone to China for the Stem Cell Injections and if so has there been any improvement?

Do you know what type of Ataxia he has?

Wishing good things for you all.

It's Sept 2nd and my brother is about to leave for China on the 8th of Sept, he has been counting the days. He is in bad shape, cannot walk and his speech is very bad, slurring more than ever. He got to meet a 21 year old girl here in Kansas City over the weekend. She was in worse condition than my brother, went to China and had the Stem Cell Injections done. She is now out of her wheel Chair and is doing unbelievable better. She is now driving and works like everyone else. She is a Prime Example of not giving up or giving in to the people who told her that she was waisting her time going to China, but she proved them wrong. The cost is over 40k, but it is worth saving a life for that amount. We had fund raisers and we collected over 20k, I pitched in the balance of 25k and have no ill feelings about my choice, he is my brother and if there is a chance i will do what ever it takes. I hope anyone with this disease looks into this type of treatment. I know Stem Cell is a bad subject in the USA, but we will not give in to the doctors that told him to go home and die. My brother was told my the Mayo Clinic that has Genetic Ataxia, but I believe it was caused by paint thinner from being a auto painter all his life, back then the protection from breathing the fumes was not good. Paint thinner can be one of the causes of this disease, but what do I know? I told my brother he had Ataxia from the beginning, but his wife and son told me I was wrong and all the doctors said he was mental. It took going to the Mayo Clinic and thousands of dollars to tell him what I already knew from my research. Please say a pray for my brother John , and God Bless all of you.

kcagent007 · 09-02-2008, 11:37 PM

Quote:

Originally Posted by Cathy

One of my sisters has been diagosed with this condition that is incurable. It is simply a shrinking of the cerebellum and it destroys motor functions, slurs speech, later on it will not allow her to swallow. They say it is similar to Lou Gehrigs disease. She has been battling it for a number of years until she was diagnosed at the Mayo Clinic this past June. They have no idea how progressive it is; I guess each person is different. She is in assisted living as she wants to be as independent as possible for as long as she can. She is already walking with a walker and her speech is definitely slurred. She has to think really hard to form her words. My heart just aches for her. She keeps her spirits up and has been told she has added a lot already to their community at the assisted living facility. I just wonder if anyone has heard of this condition and if you would have anymore information about it. Mostly its progression. Thank, Cathy

It's Sept 2nd and my brother is about to leave for China on the 8th of Sept, he has been counting the days. He is in bad shape, cannot walk and his speech is very bad, slurring more than ever. He got to meet a 21 year old girl here in Kansas City over the weekend. She was in worse condition than my brother, went to China and had the Stem Cell Injections done. She is now out of her wheel Chair and is doing unbelievable better. She is now driving and works like everyone else. She is a Prime Example of not giving up or giving in to the people who told her that she was waisting her time going to China, but she proved them wrong. The cost is over 40k, but it is worth saving a life for that amount. We had fund raisers and we collected over 20k, I pitched in the balance of 25k and have no ill feelings about my choice, he is my brother and if there is a chance i will do what ever it takes. I hope anyone with this disease looks into this type of treatment. I know Stem Cell is a bad subject in the USA, but we will not give in to the doctors that told him to go home and die. My brother was told my the Mayo Clinic that has Genetic Ataxia, but I believe it was caused by paint thinner from being a auto painter all his life, back then the protection from breathing the fumes was not good. Paint thinner can be one of the causes of this disease, but what do I know? I told my brother he had Ataxia from the beginning, but his wife and son told me I was wrong and all the doctors said he was mental. It took going to the Mayo Clinic and thousands of dollars to tell him what I already knew from my research. Please say a pray for my brother John , and God Bless all of you.

color · 09-27-2008, 07:44 PM

Dear Rhartn,
Hello, and apologies for not responding sooner. I haven't checked in for quite awhile, but I was very excited to see that this thread got some more recent posts.

Anyway, to answer your question re: my statement about testing -- "commercially available types of autosomal dominants," here is what I meant: You see, since our family's faulty gene has never been identified in the past, my neurologists have been pretty much playing the game of elimination. And even though there are currently 31 types of hereditary Ataxias which have been identified, only about 1/3 of the types are commercially testable (through Athena Diagnostics in MA and a few more, overseas in Germany). Re: the autosomal dominant part, the fact that ours affects every generation (whereas autosomal recessive skips a generation) has narrowed the field down somewhat for us, fortunately.

A variant of "unknown clinical significance" was identified on the KCNC3 gene when I tested for SCA-13. However, when I spoke with a neurogeneticist about this last month, she feels that it may or may not mean something for me/us, who knows? And so the next step, if I want to continue my pursuit, is to test additional affected family members -- and if they have the same variant, then...just maybe...

Take care and here's to continued slow progression,
Chris

color · 09-27-2008, 08:08 PM

Dear kcagent007,
Please keep us posted on your brother's visit and treatment. You are a wonderful sibling to have helped so!

Blessings,
Color

tritter · 08-28-2009, 10:34 AM

Quote:

Originally Posted by jccgf

Thanks, Rose, for the specific mention of B12 deficiency. How could I have neglected to mention that

? Vitamin E and CoQ10 deficiencies are also associated with cerebellar ataxia, and googling cerebellar ataxia with any of these should bring up lots of supporting data. Now, one would hope that the good doctors at Mayo would have considered these things, but you never know, and lab tests are not 100% accurate in determining underlying deficiencies. We know from personal experience how often B12 deficiency goes unrecognized for so many reasons. I'd want to be sure I had strong levels of all of these.

Cara

Hello. I am new to this site. Last year my father starting having problems with vision in his left eye. The eye doctor said it looked like a stroke behind the eye. Just as he was beginning to cope with that his speech became slurred and he would stumble around like he was drunk. He said his leg at times feels like it was not even a part of his body, but rater something heavy to carry around. He said that he is not actually dizzy, but feels unsteady. Also, his speech at times is very hard to understand. This past weekend he had a couple of episodes where he could not talk. Finally, drinking liquids (mainly water) chokes him. We too him to UAMS a diagnostic hospital/clinic. They ran all kinds of tests. They could not find anything. At first they were sure it was Lou Gherics, but then they decided it was a shrinking cerebellum. That too they could not say conclusively without a brain biopsy which my father has opted not to do. I began reading some of the posts here and he is wanting to try the enzyme to see if it helps with his unsteadiness. Plus we are looking for information about the gluten free diet. My questions are, what mg do you take of the CoQ10? I know the results take a while, but how long did it take before you started noticing a difference? Any help, advice, etc would be appreciated.

mrsD · 08-29-2009, 08:12 AM

Quote:

Originally Posted by tritter

Hello. I am new to this site. Last year my father starting having problems with vision in his left eye. The eye doctor said it looked like a stroke behind the eye. Just as he was beginning to cope with that his speech became slurred and he would stumble around like he was drunk. He said his leg at times feels like it was not even a part of his body, but rater something heavy to carry around. He said that he is not actually dizzy, but feels unsteady. Also, his speech at times is very hard to understand. This past weekend he had a couple of episodes where he could not talk. Finally, drinking liquids (mainly water) chokes him. We too him to UAMS a diagnostic hospital/clinic. They ran all kinds of tests. They could not find anything. At first they were sure it was Lou Gherics, but then they decided it was a shrinking cerebellum. That too they could not say conclusively without a brain biopsy which my father has opted not to do. I began reading some of the posts here and he is wanting to try the enzyme to see if it helps with his unsteadiness. Plus we are looking for information about the gluten free diet. My questions are, what mg do you take of the CoQ10? I know the results take a while, but how long did it take before you started noticing a difference? Any help, advice, etc would be appreciated.

The patients with ataxia, take very high doses of CoQ-10. This nutrient has absorption problems, so some companies have special forms that they claim are more potent.

In this study, suggested doses were really high 600mg 4 times a day.
http://clinicaltrials.gov/ct2/show/NCT00957216

This study showed both low dose and high dose worked:

Quote:

Eur J Neurol. 2008 Dec;15(12):1371-9.Click here to read Links
Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy.
Cooper JM, Korlipara LV, Hart PE, Bradley JL, Schapira AH.

University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK. j.cooper@medsch.ucl.ac.uk

BACKGROUND AND PURPOSE: A pilot study of high dose coenzyme Q(10) (CoQ(10))/vitamin E therapy in Friedreich's ataxia (FRDA) patients resulted in significant clinical improvements in most patients. This study investigated the potential for this treatment to modify clinical progression in FRDA in a randomized double blind trial. METHODS: Fifty FRDA patients were randomly divided into high or low dose CoQ(10)/ vitamin E groups. The change in International Co-operative Ataxia Ratings Scale (ICARS) was assessed over 2 years as the primary end-point. A post hoc analysis was made using cross-sectional data. RESULTS: At baseline serum CoQ(10) and vitamin E levels were significantly decreased in the FRDA patients (P < 0.001). During the trial CoQ(10) and vitamin E levels significantly increased in both groups (P < 0.01). The primary and secondary end-points were not significantly different between the therapy groups. When compared to cross-sectional data 49% of all patients demonstrated improved ICARS scores. This responder group had significantly lower baseline serum CoQ(10) levels. CONCLUSIONS: A high proportion of FRDA patients have a decreased serum CoQ(10) level which was the best predictor of a positive clinical response to CoQ(10)/vitamin E therapy. Low and high dose CoQ(10)/vitamin E therapies were equally effective in improving ICARS scores.

PMID: 19049556 [PubMed - indexed for MEDLINE]

from http://www.ncbi.nlm.nih.gov/pubmed/19049556

The Tishcon company is often used by doctors and this place sells it. Its higher quality means you don't need gram range dosing but it is more pricey than others.
I'd start at the 60mg twice a day and increase if needed over time.
http://www.epic4health.com/noname.html

There are other makers, one is Doctor's Best... but it has Bioperine added to increase absorption. Bioperine may interfere with drug therapies if your father takes prescription drugs. So I would not use this type at this time.

Non Tischon CoQ-10 will need high doses, at least 300mg once or twice a day to start, and see if you need to move higher, say every 2wks-4wks. Increase slowly and give it time to work. This may save you money. CoQ-10 is not a toxic substance, so only your pocket book is a factor for most people.

This monograph may be helpful:
http://lpi.oregonstate.edu/infocenter/othernuts/coq10/

Quote:

Friedreich's ataxia

Friedreich's ataxia (FRDA) is an inherited, autosomal recessive neurodegenerative disease caused by mutations in the gene that encodes frataxin, a mitochondrial protein of unknown function. Decreased expression of frataxin is associated with accumulation of iron within the mitochondria, thereby resulting in increased oxidative stress, imbalances in iron-sulfur containing proteins including mitochondrial aconitase, and reduced activities of the mitochondrial respiratory chain (66). Clinically, FRDA is a progressive disease characterized by limb ataxia and CNS abnormalities that result from sensory nerve degeneration (67, 68). In addition, FRDA patients may present with symptoms of hypertrophic cardiomyopathy and diabetes (69). A pilot study administering coenzyme Q10 (200 mg/d) and vitamin E (2100 IU/d) to ten FDRA patients found that energy metabolism of cardiac and skeletal muscle was improved after only three months of therapy (70). Follow-up assessments at 47 months indicated that cardiac and skeletal muscle improvements were maintained, and that FRDA patients showed significant increases in fractional shortening, a measure of cardiac function. Moreover, the therapy was effective at preventing the progressive decline of neurological function (71). Although the results of this pilot study are promising, large-scale randomized clinical trials are necessary to determine whether coenzyme Q10, in conjunction with vitamin E, has therapeutic benefit in FRDA.

There are newer versions of CoQ-10 called Ubinquinol. These allow lower dosing, but are much more costly. They claim better absorption.

Werner Smuts · 02-03-2010, 07:02 AM

Quote:

Originally Posted by kcagent007

My brother has been diagnosed with Ataxia and has been told by the Mayo Clinic that there is no hope. We have now decided to send him to China for Stem Cell Injections (). It is the only option that we have except for death. This was his choice, and not ours, but we support his choice. We have met others have have gone to China and this has been a huge improvement, not only with Ataxia, but other diseases. There is no way we could do this in the USA.

Hi, My name is Werner and i live in South Africa. I'm sorry to hear about your brother. My Daughter 10 years old has been diagnosed with Ataxia. But the question I have is... did the stem cell injections work? i'll do anything for my daughter as it is prognosed that she has one of the fatal ataxia's and that the prospect doesn't look good.

Thank you for taking the time.

Best Regards
Werner

Koala77 · 02-03-2010, 07:11 AM

Hello Werner, and welcome to NeuroTalk.

I'm not sure if you noticed that this is an old thread but considering it was commenced back in 2007, it's possible the person you've addressed your reply to, make not see it.

Hopefully others will be able to assist you if that's the case.

alexnov19 · 09-12-2011, 12:09 PM

If you are still out there, I would like to know how your brother is doing and what happened.
Thanks, Alex

alexnov19 · 09-12-2011, 12:23 PM

I am a new member to this forum and I have started to read different stories that has given me courage to keep moving forward and be strong. I am a 57yr old male with c. ataxia.

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