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ALS 101

As I wrote earlier ALS or also Lou Gehrig disease is one of the biggest mystery in the world of chronic diseases. Let´s introduce it briefly before we get gradually to the most important information on this web site. I decided I will need to break down the whole information in posts to better structure and organize it.

People who don´t know this disease can watch below video and go through any other similar available on Youtube. We will mainly focus on key aspects and try to summarize the current state of understanding the disease.

Above video describes the disease using the current state of knowing things. I would not agree with everything but this is what is basically known at this point of time.  So let´s just summarize the key information – I apologize if I am slightly incorrect but I try to proceed like a scientist which I´m not. As usually please send any concerns or feedback.

  • Disease probably known since early 19th century and medically described a bit later​1​.
  • People can receive this diagnosis almost any time, usually in adult age but sometimes even very young person receive the diagnosis. I also saw video on YT indicating 8 year old girl has ALS.
  • It affects part of brain where motoric neurons are located which in turn causes problems with muscle control – continuous movement limitation process starts and unfortunately never stops until the patient dies. Based on information here​2​ human body has upper and lower motoric neuron centres in the brain and also another center in spinal cord.
  • The length of life with this diagnosis varies and nobody knows what exactly affects it. Some people live longer than those officially communicated five years since receiving the diagnosis. A remarkable case is the famous physicist Sir Stephen Hawking who was able to live with it for several decades – nobody can explain this!
  • There is no cure or treatment – all the attempts including stem cell therapy are failing – phase I of stem cell therapy is described here​3​ and currently there is phase III at some stage of progress​4​ but no real breakthrough was achieved as far as I am aware.
  • As a possible cause genetic factors are heavily mentioned – I will add few citations later.
  • Besides the genetic factors also environment factors are being mentioned – hightened stress, infections, toxicity.
    • Under stress we mean so called oxidative stress​5​
  • Another observation from statistics point is worth noting – despite practically anonye can receive the diagnosis it is clear some groups in terms of profession seem more endengared or prone:
    • professional athletes like soccer or american football and other demanding sports – Lou Gehrig was a baseball player​6,7​
    • men in service – military​8​
    • body builders​9​
  • Another „unrelated“ observation scientists already made is presence of herpetic and other viruses in human body and brain which are already known for causing cancer and multiple scleorosis​10,11​
  • Another observation is that some patients recognized improvement before their health state got worse again – this is explained as “transient cases”​12​
  • Another piece of information is actually also the reason for that little bit cumbersome disease name. The french neurolog Jean-Martin Charcot who is actually the first man who formally described the disease, conducted autopsies of dead patients and observed one common sign – some strange „hardening“ on the spinal cord which is even today believed as major reason why patients experience the gradual motoric functions degradation – neuron cells are dying there.
  • Another thing scientists noticed is abnormally high amounts of glutamate in brain of people with ALS​13​. As I understood glutamate is an important neurotransmitter but the trick is in the right amount which needs to be “just enough but not more”. Otherwise it is toxic and causes neuron deaths.

I went through another book​14​ and mainly chapter devoted to ALS and Alzheimer diseases. Good thing about this book is it is targeted to public rather than scientist colleagues. Authors are asking following. We have learned that the immune system can help heal a sudden injury to our spine, mend a crushed optic nerve or repair damage to our retinas. How does it deal with chronic brain disorders? We know now that in many diseases, including cancer, there is a component of inflammation​14​.

This information is key aspect in building the experimental theory and as you can see, cancer and Alzheimer diseases are somewhat related – I think there are many many more but let´s go step by step and thus back to ALS and those genetic factors. This is where the scientific medical world got stuck in fact.

First I need to write two major ALS categories were observed and defined. A family category where genetic factor is considered significant, a traditional inheritance. Then there is a second category which was labeled as sporadic ALS. You can read more about it in this scientific article​15​. I would summarize it that modern science discovered some common disorder in genes or DNA of people diagnozed with ALS.

In terms of the genetic aspects we can again cite M. Schwartz and A. London. One of the most common mutations is the one that damages super oxid dismutase 1 (SOD1), a protein that protects cells from free radicals​14​. This is extremely important. There are other mutations – another one is related to gene C9orf72 and the disorder here is that healthy human DNA has much lesser amount of this gene sequence than a person with ALS. This gene includes a short sequence that is repeated two to twenty-three times in healthy individuals but between seven hundred and sixteen hundred times in some ALS patients. The function of the protein encoded by this gene is currently unknown but researchers suggest that the expanded sequence repetition interferes with the process of converting the genetic code into functional protein, resulting in aggregation of genetic material and exacerbated toxicity in neurons. To date, this is the most common genetic abnormality found in both familial and nonhereditary ALS cases​14​.

This information is enough and plays role also in the experimental theory – perhaps one pillar I would say. A second pillar is also found in the book I cited already. Because theories for ALS development represent such a wide spectrum of potential causes, scientists are looking for aspects of lifestyle shared among ALS patients that might shed light on the way illness develops. Excessive exposure to certain metals or chemicals in the workspace, repeated viral infections, smoking and even strenuous physical activity and military service are all increased risk of ALS. Various studies have confirmed an almost doubled risk of ALS among military personnel who had been deployed to various conflict areas across the world, leading the U.S. Department of Veterans Affairs to declare ALS a disease connected to military service. Researchers have also noted that ALS might be overrepresented among athletes, with Lou Gehrig being the most famous example.​14​

Besides this, science is focusing on the auto-immune character of the disease, role of lymphocytes (T-ones) and then blood-brain barrier problem which seems like it prevents the immune system to get immune system cells to brain areas. More over what was observed in general in cancer cases is strange behavior of immune system cells which kind of refuse to do their job once they reach a tumor or inflammation area. I apologize to scientists for my non-scientific language but that is how I understood it. The role of inflammation will be covered in the next post and bright reader can remember relationship to cancer while our major topic is still ALS. Actually it is not all – multiple sclerosis or Alzheimer and Parkinson diseases are related as well and many many others – note the generic site title.

Despite there is no cure I will close this post with slight optimism – what we have covered here is extremely important, the genes obeserved, family factor, environmental factors, sport and military factors, inflammation, behavior of immune system and transient ALS cases. So far science does not know how all the factors play together so that ALS disease gets developed – this is illustrated on a diagram I created. As I wrote earlier it is not easy to lay out a logical theory but as I wrote earlier there is one and I made it my starting point and I tried to explore or even “refine it” (super ambitious, I know!). The theory is just a theory similarly as Stephen Hawking Black Hole theory was just a theory for a long time.

In next posts after necessary theoretical explanation I will finally try to replace all the question marks with possible relationships.

Let´s reiterate a most important information science mentions:
Excessive exposure to certain metals or chemicals in the workspace, repeated viral infections, smoking and even strenuous physical activity and military service are all increased risk of ALS


  1. 1.
    ALS History. Wikipedia. Accessed December 2020.
  2. 2.
    How did Stephen Hawking live 55 years with ALS? PBS. Accessed August 2020.
  3. 3.
    Mazzini L, Gelati M, Vescovi AL. Human neural stem cell transplantation in ALS: initial results from a phase I trial. BMC. Accessed August 2020.
  4. 4.
    Melamed D. Potential Stem Cell Therapy for ALS Moving into Phase 3 Trial. AlsNewsToday. Accessed August 2020.
  5. 5.
    Oxidative Stress. Wikipedia. Accessed August 2020.
  6. 6.
    George J. Pro Soccer Players Show Higher ALS Risk. MedPageToday. Accessed August 2020.
  7. 7.
    Researchers Uncover a Common Link Between ALS and CTE. ALSA. Accessed August 2020.
  8. 8.
    LaMotte S. The cruel mystery of ALS and military veterans. CNN. Accessed August 2020.
  9. 9.
    Manuel M, Hackman C. Stronger is not always better: Could a bodybuilding dietary supplement lead to ALS? ResearchGate. Accessed August 2020.
  10. 10.
    Cancer. Wikipedia. Accessed August 2020.
  11. 11.
    HHV-6. Wikipedia. Accessed August 2020.
  12. 12.
    ALS Facts Statistics. AlsNewsToday. Accessed August 2020.
  13. 13.
    Odoya E, Norris MA. Anatomy & Physiology For Dummies. 3rd ed. For Dummies; 2017.
  14. 14.
    Schwartz M, London A. NEUROIMUNITY – A New Science That Will Revolutionize How We Keep Our Brain Healthy And Young. Yale University Press/NEW HEAVEN & LONDON; 2015.
  15. 15.
    Bishop S. Most Cases of ALS Do Not Run in Families. Mayo Clinic. Accessed August 2020.

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This entry is part 3 of 35 in the series ALS Experimental Theory

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