A Medical & Research Synopsis - Part 1

One of the posts here that continues to get the most hits is the one I did on stem cell therapy. That combined with the fact that I still get emails and questions from patients and caregivers with this and other alphabet diseases has led me to do this post.

I see by the posts on the MSA Facebook pages and other "gathering places" online that the isolation that my wife and I felt when she got her diagnosis is still prevalent in patients and caregivers. The alphabet diseases of the brain are still rare enough that it is still a surprise to find a doctor or nurse that has knowledge of the diseases and their symptoms.

I am going to attempt to outline the what I have found as far as medical knowledge of, pathology of, progression of, and ultimately potential treatments of MSA and related alphabet diseases. I am going to do this in parts, as I have already worked on this one for an hour and barely scratched the surface.

I want to mention again - I am not a medical practitioner of any type. I have a long standing interest in medicine dating from my childhood combined with a voracious appetite for reading and accumulating knowledge. With my wife's diagnosis of and ultimate death from complications of MSA, I have done even more research into diseases of the human brain concentrating on scientific and medical breakthroughs in this area. So, although I am going to be as accurate and specific as I can be, this is not intended to guide anyone in the treatment, diagnosis, or prognosis of a specific disease. I will share some of my conjecture and opinions but I will identify them accordingly. I also do not intend to or mean to present this as a scientific paper. I will present this as simply as I can (and as I have to, not being an expert or trained in this area). I am sure I will make mistakes. Do not take anything said here as "gospel". Hopefully this will provide you with some seeds to start your learning process. Most of this I have gotten from the internet, some from scientific journals and textbooks, and some from doctors and researchers I have corresponded with.

A lot of breakthroughs have occurred with brain diseases in the past five to seven years. I know from personal experience, when you and/or a loved one are facing one of these diseases and find it hard to get the information you want, it seems like no one knows anything; but that is not the case.

Actually the brain itself is still very unknown territory. Doctors and scientists alike are still mystified by the things it does and the processes by which it does them. The diseases that impact the brain are still very much a mystery as well. When one does not know how something is done, figuring out why it is not being done any longer is made almost impossible! One of the "problems" facing researchers into the brain is the fact that a lot of research cannot be done on the human brain for medical and ethical reasons. You cannot dissect a brain without killing the host body. You cannot "try" different procedures on the brain for the same reasons. The human brain is so vastly complex that there is no model outside of the actual brain itself that lends itself to accurate study. Animal research has been of great help in a lot of cases, but the differences in the human brain and its functions from a lab rat's brain is much more dramatic than other systems in the body. The fact that our brain not only performs the physical control center functions of operating movements, processing information, and other animal-like processes; but contains "us", makes any attempt to understand the functions very, very difficult.

I call these diseases "alphabet diseases" for obvious reasons. They are: ALS (Amyotrophic Lateral Sclerosis), CBD (Corticobasal Degeneration), DLB (Dementia with Lewy Bodies), MSA (Multiple System Atrophy), PAF (Pure Autonomic Failure), and PSP (Progressive Supranuclear Palsy). This is not meant to be a complete list, but these all affect the brain and are identified by their initials. They are all now classified as diseases caused by irregular "clumps" of proteins. Depending upon the primary type of this protein they are classified as tauopathies or synucleinopathies. MSA is a synucleinopathy. PSP (and Alzheimer's which I did not mention) is a tauopathies. They are similar in that protein "clumps" aggregate in the brain. The difference is the type of protein that forms these "clumps" - tau or synuclein.

There has been much research into these "clumps" and some promising results in treating them, at least in vitro (or outside of the body). However, one huge question remains - are these irregular proteins the cause or are they one of the effects? It has been shown in studies that slowing the aggregation of these proteins does slow the progression of these diseases. But again, is it just working on a symptom or a cause? This is a critical question that must be answered prior to any treatments or cures.

Now is a good time to bring up one thing that keeps coming up in comments and posts I see around the web. Although the tauopathies or synucleinopathies all have similarities and most are called Parkinson's Plus diseases, the pathology of the individual diseases are quite different. As I have already pointed out, the proteins involved in these diseases are distinctly different and divide them into two classes. The areas of the brain affected by the diseases, even with similar symptoms, are different. For example MSA-P (Parkinson's type with many Parkinson's symptoms and responding to levadopa) is vastly different from Parkinson's. They way I had it explained to me was - in Parkinson's the brain stops producing dopamine. In MSA the receptors for dopamine uptake are degenerating. Compare this to a group communicating by radios. One radio will not transmit and another will not receive. The result is the same, poor or no communication. The cause is totally different and thus the "cure" would be different. I classify myself as a realistic optimist. I know that research is coming up with chemical compounds and other treatments every day that have a positive effect on one or more of these diseases. I am heartened by these results. However, I also know that a treatment or cure for one does not mean a treatment or cure for another. Any research into the brain and it's chemistry is good for all these diseases. As I stated above, there is still so much that is not known about how the brain functions and how these diseases exactly affect the brain, especially in their early stages. So, you can remain positive and be happy when you see a new drug is being tested on Parkinson's patients. But, be cautious as well. One example I will leave you with is pneumonia. Even with all our antibiotics, antiviral agents, vaccines against certain types - pneumonia still kills over 4 million people a year! A "cure" for these alphabet diseases may be a long time coming.

End part 1.