Mohassel et al. (2021) sequenced the genomes of 11 ALS patients in 7 independent families, and identified four SPTLC1 variants in seven JALS. Johnson et al. (2021) used WES in a total of 66 patients with juvenile ALS and 6,258 adult patients with ALS. They found 3 unrelated JALS patients carried de novo variants in SPTLC1 and identified a JALS patient with another SPTLC1 variant for whom inheritance could not be determined. The gene discussed is SPTLC1; the disease is amyotrophic lateral sclerosis.