On the other hand, the fact of having found a strong correlation between the expression of BSCL2 and different genes of the peroxisomes, that the overexpression of BSCL2 in neuronal cultures increased their expression, and that in confocal microscopy studies of hypothalamus samples of the index case the presence of PEX16 was not observed, led us to hypothesize that, beyond the proposed mechanisms of neuronal death in PELD, a poor functioning of the peroxisomes could be contributing to the neurodegenerative phenotype [3,39,40]. The gene discussed is BSCL2; the disease is severe neurodegenerative syndrome with lipodystrophy.