ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

Rita Mejzini, Loren L. Flynn, Ianthe L. Pitout, Sue Fletcher, Steve D. Wilton, P. Anthony Akkari

Research output: Contribution to journalReview articlepeer-review

455 Citations (Scopus)


The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift as the number of genes associated with the disease risk and pathogenesis, and the cellular processes involved, continues to grow. Despite decades of intense research and over 50 potentially causative or disease-modifying genes identified, etiology remains unexplained and treatment options remain limited for the majority of ALS patients. Various factors have contributed to the slow progress in understanding and developing therapeutics for this disease. Here, we review the genetic basis of ALS, highlighting factors that have contributed to the elusiveness of genetic heritability. The most commonly mutated ALS-linked genes are reviewed with an emphasis on disease-causing mechanisms. The cellular processes involved in ALS pathogenesis are discussed, with evidence implicating their involvement in ALS summarized. Past and present therapeutic strategies and the benefits and limitations of the model systems available to ALS researchers are discussed with future directions for research that may lead to effective treatment strategies outlined.

Original languageEnglish
Article number1310
JournalFrontiers in Neuroscience
Publication statusPublished - 6 Dec 2019


Dive into the research topics of 'ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?'. Together they form a unique fingerprint.

Cite this