CHCHD10 and neurodegenerative disease: The present study focuses on analyzing the oxidative capacity and ventilatory profiles of spinal muscular atrophy, Jokela type (SMAJ), which is an autosomal dominant spinal muscular atrophy caused by the Finnish founder mutation c.197G>T (p.Gly66Val) in CHCHD10. CHCHD10 is a protein localized in the mitochondrial intermembrane space and has drawn significant attention in recent years due to its association with amyotrophic lateral sclerosis and other neurodegenerative diseases (24).