Natural history and the dawning of a new era for familial ALS

To date, more than 20 different genes have been discovered linked to the development of amyotrophic lateral sclerosis (ALS), with C9ORF72, TARDBP, SOD1 and FUS being the most prevalent.1 Since the discovery of the SOD1 mutation in 1993—the first gene associated with the disease—models based on this genetic mutation have made a significant contribution to understanding ALS pathogenesis. So far, more than 180 SOD1 mutations have been described, further contributing to ALS heterogeneity through expression as different clinical phenotypes. However, despite these advances in genetic understanding, ALS remains a universally fatal neurodegenerative disease, typically resulting in death within 2–3 years.23 The clinical, pathological and genetic heterogeneity of ALS has made it difficult to develop therapeutic targets and neuroprotective approaches.4 Until now, the only neuroprotective treatment capable of modifying the disease course is riluzole, a glutamate release inhibitor and sodium channel modulator that...

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