Glycoproteomic characterisation of pathogenic gene mutations in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)

ALS is a devastating disease that destroys motor neurons, leading to progressive motor function loss and ultimately death, usually within 2-3 years from diagnosis. This disease places a huge burden on the patients and their families as there are no viable treatment options. Therefore, there is a strong need to characterise the causative mechanisms that contribute to disease onset and progression. In many studies attempting to understand the biological mechanisms of ALS, in vivo and in vitro models using gene mutations found in familial ALS cases are often employed to recapitulate features of the disease despite these mutations accounting for only ~10% cases. These disease models that incorporate gene mutations from familial ALS cases appear clinically indistinguishable from sporadic cases, and therefore provides a model to better understand the biology of sporadic ALS