I am an ALS patient and I am trying to gain a clearer understanding
of this disease. If I may, I have listed some questions which I
would like some help with. I would appreciate any help anyone can
offer. I apologise if some of these sound dumb but my background is
electronics and computing not neuroscience, but I am learning fast.
1. ALS appears to damage the large neurones in the anterior grey
matter and interneurones both of which are believed to be glycinergic.
( Hayashi et al 1980 ) It was found that the glycinergic receptors
demonstrated reduced bindings. The cholinergic, dopaminergic, GABAergic
and beta-adrenergic receptor bindings were normal. Is this still the
current school of thought and is it true that ALS is limited in this
2. In the familial case of ALS it was discovered that the SOD gene
was mutated. It was demonstrated that the level of SOD was
reduced in these cases. However it was discovered that this reduced
level exists in people prior to the onset of ALS symptoms. This
raises some questions.
a) Is it the case that the mutation does not cause ALS but simply
makes people more susceptible to the disease. If this is the case
what might it be that triggers this transition?
b) Do we know if there is anyone who has the mutation and the reduced
SOD level, but has never contracted ALS? Also is it possible
to correlate the onset with the proportion of reduced SOD levels
in individuals? Is there a critical level?
c) Could it be that SOD gene mutation is purely coincidental and is
not related to the disease onset?
3. There is much talk in the medical community at present about
neurotrophic factors. It has been said that ALS is likely to be
one of the first disorders to benefit from nerve growth factors
because crossing the blood brain barrier is not necessary. I am
not clear on this. If the neurones are dead how can they be revived?
Indeed are they dead or simply comatosed in some way? Also what
decides whether they live or die? What is the criteria for deciding
against growth or death?
4. Finally people talk of ALS as if it were one disease with a
variety of symptoms. Is it not possible that we are looking at
range of different diseases but with similar symptoms? Do we need
to improve diagnostic techniques if we are going to make treatment
effective for individuals?
Hopefully I have not offended anyone with these fairly basic questions
but I am trying to learn as much as possible about this disorder.
This is prior to submitting myself to various drug trials and potential
treatments, but I would like to understand a little more. Having
said that time is of the essence and maybe it is too late for me.
Perhaps I am an optimist but I do feel we are the verge of some
breakthroughs at last, which could help others.
Internet mail address-Tony.McDonough at cray.com