Amyotrophic Lateral Sclerosis: An Update for 2018

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting motor neurons and other neuronal cells, leading to severe disability and eventually death from ventilatory failure. It has a prevalence of 5 in 100,000, with an incidence of 1.7 per 100,000, reflecting short average survival. The pathogenesis is incompletely understood, but defects of RNA processing and protein clearance may be fundamental. Repeat expansions in the chromosome 9 open reading frame 72 gene (C9orf72) are the most common known genetic cause of ALS and are seen in approximately 40% of patients with a family history and approximately 10% of those without.

Source: Mayo Clinic Proceedings - July 4, 2018 Category: Internal Medicine Authors: Bj örn Oskarsson, Tania F. Gendron, Nathan P. Staff Tags: Review Source Type: research