While in ALS the phosphorylated neurofilament heavy chain (pNFH) has been studied as CSF biomarker to a similar extent as NFL, in the field of FTD and other dementias, NFL has been more widely investigated than pNFH (Verde et al., 2019a; Swift et al., 2021). The gene discussed is NEFH; the disease is amyotrophic lateral sclerosis.