If there is an observable change in nerve terminals by proliferation, and neuron grow ratio is slow but (I assume) constant and known, could we "go back" in time and estimate an interval of time when the fasciculation started?
(Could support/reject the theory of an previous event that triggered the disease like a neurotoxic poison or so)
Yes I suppose it is possible in theory, but as in the first phase described in the article, surviving motor units are taking in charge junctions of the dying motor units, so the disease is invisible.
There are many theories about what causes ALS, most are borrowed from other diseases and some may reflect our thinking processes: We need a single cause for our comfort. But there may be no single cause of ALS, and perhaps no causal chain at all.
Actually it could be simply that when an upper motor neuron is stressed the disease is named ALS, when it is a neuron in substancia nigra it is called Parkinson, and when it is in the cingulate gyrus (and mostly in lobes) we call it Alzheimer.
But actually it is a story about neurons that are dying in the brain.
Thank you for bringing HN community's awareness about SLA.
My mum has been struggling with SLA since January and now at an advanced stage. As a reminder, there is currently no treatment and patients are told there is no revert back and that what's gone will always be.
In addition to express a second time my gratitude to anyone working on the topic or just bringing public awareness about it, I wanted to mention a few things about the current situation for people suffering from that or any severe disease/rare disease potentially:
- Covid is making everything extremely challenging. Hospitals and doctors seem to be overwhelmed and communication/examination is very slow or difficult. I really hope that, despite the risks and consequences of the pandemic, we don't forget other diseases are still here and people are suffering from them.
- She lives in France and not in a metropolitan area (somewhat close to Paris). When the only hospital able to receive people affected with the disease is not responsive, there is no alternative. We wish some private, specialized hospitals or medical center could assist her when needed.
- We have very little to none information about the current research and trials about the disease. We would be very grateful from any good source of information (for patients and helpers) - thanks to this discussion, Jean-Pierre I have just bought your book which I think will help with this point.
- ALS is extremely distressing and devastating for both the people sick, but also helpers and family. It mentally affects in ways we couldn't imagine before and I wish psychological support wouldn't be opt-in.
- Admin work around the disease is mind boggling. Luckily my dad has been able to retire and exhaust himself between personal care, day and night, and admin non sense. It really shouldn't be.
We are very left alone when facing the disease and patients don't know where to look. It has been a reminder to be grateful for the moments we are able to live with our loved ones.
Additionally, I have a solid dev background and if there is any project on the topic I could join and help to improve the research or any of the pain points mentioned above, please contact me.
I am sorry that your mother has SLA. Keep hope, not all ALS cases are similar, some are less frightening than the textbook ALS.
In France as in other countries there are ALS centers or ALS clinics. I hope that your mother's neurologist discussed about exams at the most convenient SLA center [0 -1].
Unfortunately and as recounted by "Agence Régional de Santé", patients' outcome is better in "CHU" than in other French hospitals.
At the moment there are two drugs, Rilutek and Edaravone. Make sure your mother got also Edaravone, it was not prescribed to my uncle. And as Herodotus38 told in another thread there are encouraging results from a clinical trial about AMX0035, a combo of two common drugs.
In a few months we will have the results about Arimoclomol from which I expect really good news, and also about Nurown, a new kind of therapy.
All those drugs do not heal but at least they buy time.
Thank you Jean-Pierre for taking the time to answer.
She is followed by the CRC SLA Paris/Salpêtrière. The center has been closed march-june as it was given to Covid patients and since then they seem to be struggling.
She's been put on Riluzone, she asked for other drugs but she got told there is none - we have never heard of Edaravone before, thanks for advising and we will look into it.
ALS is a difficult disease, both to detect early and obviously to treat. This paper is looking for a biomarker to try and detect it earlier and as a way of measuring the course of the disease. I watched my grandfather fade away from it, thankfully after a full life, so it's something I've experienced and wondered about
I looked at your website [0], those two cancer survival calculators are very interesting. While not being trained in biology or medicine, I did something a bit similar for ALS [1].
Thanks, yeah what our site does is basically let you quickly fill out a bunch of models that have been validated to give predictions for advanced cancer where the eventual outcome is more or less certain but to help people best use the time they have left it can help to get a general sense of how much time. Nothing is perfect but if they all seem to agree it can help people plan. It’s something that helps me when patients or family members want to know. I like to program as a hobby so it’s fun that way too to build things.
I’m glad to see others doing work to bridge the gap between the research and things patients and clinicians can use.
How are you deciding which areas of medicine to focus on?
Sorry if I misunderstand you, English is not my native tongue. I have no intention to study medicine as I am a retired engineer. However I followed a master class in bioinformatics at a local university and several Coursera classes (Neuroscience and system biology).
ALS is specially interesting for me as two people in my step family died of ALS. So there is a suspicion of familial ALS but nobody decided to be tested and under French laws genetic testing for ALS is a complicated process.
Ideally I would like to design a computational model of ALS. I tried a few years ago [0], before I realized the complexity of the disease.
In the mean time I try to improve public ALS understanding by publishing roughly every 4 days an article about a scientific publication.
I admire your commitment trying to tackle this, especially trying to come up with a model for the disease. There needs to be more intersection of medicine with engineers to advance things for patients.
If there is an observable change in nerve terminals by proliferation, and neuron grow ratio is slow but (I assume) constant and known, could we "go back" in time and estimate an interval of time when the fasciculation started?
(Could support/reject the theory of an previous event that triggered the disease like a neurotoxic poison or so)