Nevertheless, robust detection of pTDP‐43 in small volumes of ALS patient plasma remains difficult and is an active area of interest, as it has the potential to provide a plasma‐based measurement for TDP‐43 proteinopathy in ALS patients and to inform when TDP‐43 aggregation starts in pre‐clinical asymptomatic C9 expansion carriers. This evidence concerns the gene TARDBP and amyotrophic lateral sclerosis.