Dr. La Piana, MD, PhD, Professor in McGill’s Department of Neurology and Neurosurgery, explains her research in axonal spheroids and pigmented glia.
Transcription:
The disease-causing gene has been identified more or less 10 years ago. We are really at the early stages of research in the field as well. A lot is done still to better understand the pathophysiology of the disease.
We are working a lot on understanding how mutated microglia in these patients get to determine what we see in patients, because, again, we are talking about a disease that starts in the fourth to fifth decade, while we are presented with a mutation that is there since birth. What’s going on? How does it happen that at a certain point, a system that has always been working stops working and manifests itself with symptoms? These are the areas that we are investigating.
There is a lot in terms of clinical research that has been done. There are natural history studies ongoing because we need to understand better how the disease presents and evolves over time. We are trying to identify good biomarkers of the disease because we want to see what’s the best criteria and variable that we can observe over time, and that can then be used for clinical trials.
One important thing in terms of natural history, and this is something that I wanted to add, is that ALSP, as far as we know it, has an incomplete penetrance and a very high intrafamilial variability. Again, for clinicians, this is a very important piece of information to keep in mind because sometimes affected members, even in the same family, so carrying the same genetic error, will present very differently.
It’s not that as soon as you have one patient in the family that deteriorates, for example, very fast, that does not mean necessarily that other family members with the same error will present the same progression. That’s another area of research that needs to be developed. Why do patients carrying the same error have such a high variability in terms of clinical expression?
For more information on this and other rare neurology and nervous system diseases, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/
