Amyotrophic lateral sclerosis

Abstract

Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disorder, involving a progressive degeneration of upper and lower motor neurons, resulting in loss of motor function and eventual death. This scientific review will tackle the disease from multiple aspects so to shed light on both the clinical features and pathophysiological mechanisms of the disease. The clinical aspect will emphasize the different clinical phenotypes and touches upon the clinical overlap of frontotemporal dementia and ALS. The pathophysiology will focus on the genetic factors, contrasting the genetic architecture found in European ALS patients with that of the Maltese patients. The major pathological mechanisms involved in ALS will be mentioned. Additionally, the known environmental factors of ALS will be reviewed. Lastly, the therapeutic approaches will be discussed. In this section, riluzole is discussed, but emphasis is placed on the evolving, highly efficacious RNA-based therapy.