Why does Gaucher Disease affect the nervous system in some people but not in others?
There is no clear explanation for this although there are several theories. However, none of them has been proven. One theory that seems to be fairly plausible has to do with is the origin of glucocerebroside. Most of the glucocerebroside (we will call it GC for short) in our body comes from the membranes of blood cells that have reached the end of their natural lives and have to be broken down. However, the GC in the brain is formed from other compounds called gangliosides. This much is definite. The theory is that in type I Gaucher disease there is enough enzyme to break down this GC and so it protects the brain. However, in types 2 and 3 the enzyme levels are too low to break down the GC. As a result it builds up and that is why neurological problems occur in such patients. This theory has not yet been proven but it seems to make sense. There has also been a lot of recent interest in the role of calcium. It seems that for the correct functioning of nerve cells, calcium balance is cr
