Ataxin-2 expands insight into the ALS clinical spectrum

摘要: Amyotrophic lateral sclerosis (ALS) is a relentless and devastating motor system degenerative disease, leading to death from respiratory failure typically within 3–5 years first symptoms. Up 15% of ALS familial, with Mendelian pattern inheritance, while the remaining complex association between genetic susceptibility environmental exposure.1–3 There evolving evidence population-based differences in susceptibility, rendering identification robust associations among individual genes clinical disease symptoms challenging. However, such promises not only help understanding but also may lead improved population stratification for trial enrollment.