Abstract
Lafora disease (LD, OMIM#254780) is a rare, devastating form of progressive myoclonus epilepsy characterized by the accumulation of aberrant insoluble forms of glycogen (polyglucosans) in the brain and peripheral tissues. Recently, we reported that neuroinflammation could be considered a second hallmark of LD in mouse models, since brains from LD mice present high levels of proinflammatory cytokines and chemokines, produced by reactive astrocytes and microglia. We also reported that the TNF and IL6/Jak2 signaling pathways were the main contributors to this neuroinflammation, and that there was an infiltration of peripheral CD4+ and CD8+ T-lymphocytes in their brain parenchyma, contributing to neuroinflammation. In this work, we explored whether there was any correlation between the reported inflammation in the brain of LD animals and changes in the populations of peripheral immune cells. By flow cytometry, we observed an upregulation of myeloid cells (CD11b + ) along with a decrease in neutrophils (CD11b + Ly6G + high) and in B cells (B220 + ). We hypothesize that these alterations may be due to compromised hematopoiesis, disrupted cell survival, or aberrant peripheral cell trafficking, possibly driven by the inflammatory condition and polyglucosan-induced metabolic stress in LD mice.