Neuroinflammation in neuronal ceroid lipofuscinosis

Background Retinal degeneration and neuroinflammation are often early hallmarks of different subtypes of neuronal ceroid lipofuscinosis (NCL) in patients and genetic animal models. Objective This article gives a summary of recently published research articles and novel concepts in the field of NCL-related neuroinflammation. Material and methods A search was carried out in PubMed for relevant publications and the results as well as own NCL-related research are discussed. Results Microglia and other glial cells are chronically activated and show various dysfunctions in the central nervous system (CNS) and retina of NCL patients and animal models. This is accompanied by significant changes in the transcriptome and proteome. In NCL there is also involvement of the adaptive immune response, as demonstrated by the influx of autoantibodies and activated T cells. Conclusion A deeper understanding of the molecular processes that contribute to neuroinflammation and ultimately lead to neuronal cell death is an important basis for the discovery of possible biomarkers and the development of immunotherapies in NCL.