In addition, the concentration of neurofilaments (NfL) and phosphorylated NfH (pNFH) in cerebrospinal fluid and/or serum, which have emerged as diagnostic biomarkers of ALS and as markers of the progression of clinical symptoms of ALS (cognitive and motor performance) and may contribute to diagnostic accuracy, were not considered in our study [64]. The gene discussed is NEFL; the disease is amyotrophic lateral sclerosis.