Lysosomal storage diseases (LSDs) are commonly characterized by the reduction of a disease-specific enzyme, resulting in an accumulation of different substrates. Although all LSDs present substrate accumulations in various visceral organs, little is known why a subset of diseases additionally show neuropathological phenotypes of varying severity. Even within one LSD, cases with and without neuronal phenotype can be present. Lysosomal function is now also well-known to be indispensable for the maintenance of brain homeostasis as dysfunction has been associated with several neurodegenerative diseases, such as Alzheimer’s, Parkinson’s and Huntington’s disease. Research into neuronopathic LSDs might, therefore, also provide new insights into the pathology of classical neurodegenerative diseases.
Although treatment of several LSDs by enzyme replacement or substrate reduction therapy is now possible, patients with neuronopathic disease forms often do not profit from these treatments as well as patients without neuronopathic phenotype. This discrepancy is mostly caused by drugs that cannot cross the blood-brain barrier and insufficient knowledge about the neuronal phenotype.
The goal of this Topic is, therefore, to publish the latest findings that will help to uncover and better understand the neuronal pathology of LSDs and evaluate the neuropathological hallmarks of new and existing in vitro and in vivo models of LSDs. Additionally, new biomarkers that will facilitate a faster diagnosis as well as the development of new drugs targeting neuronopathic LSDs will be the focus of this topic.
In this Research Topic, we welcome contributions that provide valuable insight into new and existing research models of neuronopathic LSDs, research in clinical LSD samples as well as related drug development.
Contributions should include, but are not limited to, themes that address:
- Development of new in vitro or in vivo models of neuronopathic LSDs
- Characterization of neuronal pathology of existing LSD models
- Biomarkers of neuronopathic LSDs
- Development and characterization of new drugs directed against the neuronal phenotype of LSDs
- Analyses of brain tissue, CSF, or blood of LSD patients
- Comparative analyses of LSD patients with and without neuronal phenotype
- Comparative analyses of brain tissue, CSF, or blood of LSDs and AD, PD or HD patients or mouse models
Dr. Stefanie Flunkert is employee of QPS Austria GmbH as well as founder of BioDoks e.U. The research topic reflects R&D and contract research topics performed by QPS Austria, Neuropharmacology. BioDoks offers scientific writing services. Dr. Birgit Hutter-Paier is employee of QPS Austria GmbH. See above. Dr. Jan Kehr is CEO of Pronexus Analytical AB. The other Topic Editors declare no competing conflicts of interest