Genetics of ALS

Abstract

Amyotrophic lateral sclerosis (ALS) is genetically heterogeneous, with extensive phenotypic diversity and overlap with related clinical phenotypes. Although many genes have been identified that are mutated in ALS with many more implicated in the disease, the genetic cause for a large proportion of ALS risk remains to be discovered. The underlying biological mechanisms that converge on ALS are only partially understood but it is likely that aberrant RNA processing and protein homeostasis play central roles. Future research into the undiscovered genetic contribution to ALS will shed further light on these pathogenic mechanisms, as well as providing a complete catalog of the causes of the disease, which will, hopefully, contribute towards the development of a cure for this devastating condition.