The rare genes associated with the pathogenesis of ALS include glycosyltransferase 8 domain (GLT8D), carbonic anhydrase 1 (CA1) and serine palmitoyltransferase long chain base subunit 1 (SPTLC1) genes, and a series of new risk and modifying factors. This evidence concerns the gene SPTLC1 and amyotrophic lateral sclerosis.