Amyotrophic lateral sclerosis/Lou Gehrigs’ disease is a devastating neuromuscular disorder of the motor neurons with a median survival of 3-5 years. While the pathophysiological mechanisms underlying ALS development remain uncertain, the possibility of being with a predisposition to develop ALS is a popular theory. Clearly, additional events are needed to develop ALS, although these factors remain elusive. In this issue of JNNP, Fratta and colleagues report on yet another genetic mutation (possibility polymorphism) that increases the risk of ALS development. namely, E117G mutations in the Profilin1 are more frequent in ALS and could predispose to ALS development. I suspect over the next decade the ALS physician will be able to test for a myriad of genetic mutations (predisposing to ALS), that will undoubtedly enable better counseling. The question remains, WILL THIS ADVANCE IN GENETIC MUTATIONS lead to better disease understanding and development of more effective therapies.
I hope so?
Read more at : http://jnnp.bmj.com.ezproxy2.library.usyd.edu.au/content/85/5/506.abstract
Lou Gehrig with Babe Ruth-just after diagnosis.