Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.

ABSTRACT:

Background

The disease course of amyotrophic lateral sclerosis (ALS) is rapid and, because its pathophysiology is unclear, few effective treatments are available. Genetic research aims to understand the underlying mechanisms of ALS and identify potential therapeutic targets. The first gene associated with ALS was SOD1, identified in 1993 and, by early 2014, more than 20 genes had been identified as causative of, or highly associated with, ALS. These genetic discoveries have identified key disease pathways that are therapeutically testable and could potentially lead to the development of better treatments for people with ALS.

Recent developments

Since 2014, seven additional genes have been associated with ALS (MATR3, CHCHD10, TBK1, TUBA4A, NEK1, C21orf2, and CCNF), all of whi

SUBMITTER: Chia R 

PROVIDER: S-EPMC5901717 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature