Key Points:
Amyotrophic lateral sclerosis (ALS) cases can be associated with genetic mutations to specific ALS genes. This study sought to identify mutations linked to juvenile ALS, which occurs in patients less than 25 years of age. The researchers sequenced the genome of 3 patients with juvenile ALS and identified mutations to a gene called serine palmitoyltransferase (SPTLC1). SPTLC1 is involved in fat metabolism, specifically to a class of fats called sphingolipids, and suggests a harmful mechanism in ALS linked to sphingolipids. This finding may yield insight into the mechanisms that cause ALS and into potential therapies.
