Oh, man, I hate to do this, but this was published June 25 this year. It states, "Although a close association
between human leucocyte antigen (HLA) and human narcolepsy with cata-
plexy suggests an involvement of autoimmune mechanisms, this has not yet
been proved." Is this not what was proven in May?
Also it says, "The major pathophysiology of human narcolepsy has been recently discov-
ered based on the discovery of narcolepsy genes in animals... " What do they mean by "recently"? It's been a very long time.
See? To me these are contradictive to what has already been published. The first point may have just been timing (but a month in this field is a long time), but the second one is definitely old -very old- news.
therapy may be a promising new therapeutic option, and animal experiments
using gene therapy and cell transplantations are in progress." I asked my doctor about this a few years ago and he said that it would probably be a couple of decades for a new, true synthetic of orexin. I know that modafinil (sp?) is suppose to help with that, but it's not a true replacement. The cell transplantation experiments are sad to think of. This is what the pdf is that I attached in my original posting here. What's getting me is this: If there was no degeneration, then why are they trying to research transplants of cells that have died?
SORRY NYX! I couldn't help it.
Good luck with studies, and if there's anything that I can do to help you with phone calls, etc, let me know. I'm sure that you truly are strapped for time.
To hit your last point, the fact that they're trying cell transplantation is neither here nor there when it comes to relying on a definitive cause of narcolepsy (i.e., degenerative or not). Basically, the definition of a degenerative disease is one where the structure or function of the tissue/cells progressively worsens over time. If, for instance, the damage to someone's "hypocretin neurons" was done at one time in the past due to an auto-immune over reaction or other mechanism, that person may be cured by transplanting the cells they've damaged. If it's a progressively degenerative disease, the transplanted cells will be destroyed over time, so the benefit isn't as certain, but would likely help for as long as they stuck around. Then again, even if it's an auto-immune issue, if you continue to have "flare ups" you could also damage the transplanted cells if they have the same markers that triggered the immune response before. But all of this is still theories and conjecture. They're just trying to cover all bases so that research and treatments are progressing on all fronts in the event one turns out to be a dead end. Don't want to put all our eggs in one basket, right?
Alright, I'm unfortunately too tired to hunt for good quotable studies right now, but take a read through this. I just skimmed it through half-closed eyelids, but I think it should help. I believe it was Stanford who put out the "definitive" autoimmune paper you're talking about, so if their website still says it's uncertain.... I imagine nothing has been proven conclusively yet. I'll have to check later, but it's probably hard to say it's definitely autoimmune based on one study and one study group of patients. And as I hypothesized above, some people could have narcolepsy for different reasons, so while some may have it due to an autoimmune response, others could have developed it for a different reason entirely (i.e., born without enough receptors for hypocretin, brain injury (stroke, trauma, etc.), or other disease). So, they've got to hedge their statements. And I'm also guessing that not ALL patients in their study had the same marker, and think of how hard it would be to PROVE that that one mutation was the cause. I imagine they'd have to genetically alter mice or the like to recreate it and try to narrow down the direct cause and effect. So many variables.... Oops. Here's that link I thought it would be great for you all to check out: