BSCL2 and Friedreich ataxia: Homozygous variants (p.A282T) identified in BSCL2 (which codes for seipin) found in both patients suggest that relative deficiency of seipin, which leads to dysregulated fatty acid breakdown and dysfunction in the initial steps in lipid droplet synthesis (23, 24), could contribute to their overall phenotype in combination with other aspects of FRDA.