Among these, we distinguished three novel coding variants (previously not cataloged in dbSNP), including two missense SNVs in ALS2 and NEFH genes and a frameshift insertion in TAF15 exon 15 that was selectively found in the ALS patient (absent in SCA1 individuals) (Table 1). The gene discussed is NEFH; the disease is amyotrophic lateral sclerosis.