Increased Systemic HSP70B Levels in Spinal Muscular Atrophy Infants

RNA sequencing in whole blood from spinal muscular atrophy patients and healthy control infants Overall design: Here, we performed whole-blood RNA sequencing and differential expression analyses in SMA type 1 subjects under 1 year old and age-matched healthy control subjects. Our analysis identified for the first time the Heat Shock Protein Family A Member 7 (HSPA7) as a novel candidate biomarker to track SMA progression in the first year of life, with its circulating protein levels associated with circulating neurofilaments levels in SMA newborns and infants.