Perry T.C. van Doormaal

TL;DR: Evidence of ALS being a complex genetic trait with a polygenic architecture is established and the SNP-based heritability is estimated at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%).

TL;DR: A genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis and 9,013 control subjects and evaluated all SNPs with P < 1.0 × 10−4 revealed genome- wide significance for one SNP, rs12608932, which maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters at neuromuscular synapses.

TL;DR: The incidence decline in the elderly may suggest that ALS is not merely the result of ageing, and the absence of a significant postmenopausal drop in the male:female ratio suggests that the protective role of female sex hormones in ALS is limited.

TL;DR: In a new screening strategy, gene-burden analyses trained with established ALS genes are performed and a significant association between loss-of-function (LOF) NEK1 variants and FALS risk is identified.

TL;DR: An increased risk of ALS with higher levels of leisure time physical activity was found and the lack of association with occupational physical activity and the absence of a dose–response relationship strengthen the hypothesis that not increased physical activity per se but rather a genetic profile or lifestyle promoting physical fitness increases ALS susceptibility.