Rare diseases constitute a tremendously heterogeneous group of pathologies and conditions, most of which are monogenic disorders. Despite their low individual prevalence, together they affect millions of people worldwide. Biomedical research at the cellular and molecular level has shown how very different, rare syndromes can share common phenotypic alterations and molecular pathways, which very often are also present in more common and high-prevalence neurological pathologies. This is particularly interesting since epigenetic, redox, inflammatory, and cytoskeletal alterations affect a short range of cell lineages involved in synaptic transmission, neuronal and glial metabolism, and neuromuscular coordination, setting the basis for promising therapeutic strategies of a broader spectrum.
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
Rare diseases constitute a tremendously heterogeneous group of pathologies and conditions, most of which are monogenic disorders. Despite their low individual prevalence, together they affect millions of people worldwide. Biomedical research at the cellular and molecular level has shown how very different, rare syndromes can share common phenotypic alterations and molecular pathways, which very often are also present in more common and high-prevalence neurological pathologies. This is particularly interesting since epigenetic, redox, inflammatory, and cytoskeletal alterations affect a short range of cell lineages involved in synaptic transmission, neuronal and glial metabolism, and neuromuscular coordination, setting the basis for promising therapeutic strategies of a broader spectrum.
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
