Krakow 2018

Pre-clinical research is focusing on gaining a better understanding of the changes in cellular mechanisms that lead to SMA and, specifically, on the function of the SMN protein. Research over the past decade has shown that tissues and cells other than the motor neurons are also affected in SMA, although not as severely. The importance of these so-called non-motor symptoms of SMA was subject of significant debate during the congress. As increasing numbers of patients are now receiving Spinraza treatment –that specifically improves the function of motor neurons– it is possible that, in Spinraza-treated patients, non-motor symptoms become more pronounced. Thus, the extent and importance of non-motor symptoms in SMA will be the subject of further research. Moreover, many cellular mechanisms are changed in SMA because levels of the SMN protein are low. In fact, so many cellular mechanisms have now been identified to play a role in SMA that it becomes increasingly complicated to understand which mechanisms are crucial to maintain healthy motor neurons. Although different researchers have different ideas and views about this, there was much agreement that better understanding on mechanistic links between apparently separate cellular pathways and how to prioritise the involvement of specific cellular mechanisms in SMA should be a main focus of research in years to come.