About this Research Topic
Patients suffering from these pathologies can benefit from any advance regarding not only new treatments and therapeutic management, but also early diagnosis and treatment monitoring. The low prevalence of rare diseases is problematic as definitions of disease and classifications that involve disease subtypes are often cryptic and artificial. Thus, the development of novel molecular biomarkers, which can be useful not only to monitor treatments but also to improve classifications and specific diagnostic of disease subtypes is now a hot spot in the field. With this aim, descriptions of molecular pathways and regulators altered in different neurological disorders, either with high or low prevalence, could highlight commonalities and differences at the cellular and molecular level that could become critical not only to reach for a cure, but also to improve the life quality and expectancies of patients.
The focus of this Research Topic are those rare diseases, syndromes, or conditions in which neurodegeneration plays a critical role, either as the primary cause or as a secondary consequence. In particular, works addressing one or several of the following topics would be of interest:
• Novel molecular pathways altered in neurodegeneration
• Potential molecular biomarkers for rare neurodegenerative disorders
• Novel therapeutic targets for rare neurodegenerative pathologies
• Diagnostic improvement in rare neurodegenerative pathologies
• Classification and nomenclature of rare neurodegenerative disorders
• Neurodegeneration at the crossroads between rare and common neurological disorders
Original research articles, reviews and letters/comments regarding scientific-social issues related to neurodegenerative rare disorders will be welcome. Authors are encouraged to propose other specific topics, always taking into account the general scope of the special issue.
The cover image for this Research Topic is used with permission of the authors and publishers of the following article: Muñoz-Lasso, D.C., Mollá, B., Calap-Quintana, P. et al. Cofilin dysregulation alters actin turnover in frataxin-deficient neurons. Sci Rep 10, 5207 (2020). https://doi.org/10.1038/s41598-020-62050-7
Keywords: rare diseases, neurodegeneration, biomedicine, molecular pathways, genetic diagnostics, epigenetics
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.