On comparing ALS and control groups, significant elevations of biomarker concentrations in the ALS group were reproduced for CSF TDP‐43 (P = 0.0087, Fig. 3B), plasma NfL (P = 0.0031, Fig. 3C), and CSF NfL (P < 0.0001, Fig. 3D), while neither plasma TDP‐43 nor plasma t‐tau levels were different between the groups, in contrast to those in the discovery cohort. This evidence concerns the gene TARDBP and amyotrophic lateral sclerosis.