About this Research Topic
This Research Topic is the second volume in the "Insights in Neurogenesis" series. You can find Volume I here.
Hereditary spastic paraplegias (HSP) are a group of rare clinically and genetically heterogeneous syndromes sharing the primary degenerative process of the first moto-neuron as a common characteristic.
The clinical variability reflects only part of the wide molecular heterogeneity now reaching at least 80 causative genes (Spastic Paraplegia Genes – SPG). However, thanks to more accurate phenotype investigations, the clinical profile of the various SPGs is becoming more articulated, blending the original separation between pure and complicated forms and adding details in systems beyond the corticospinal one.
At the same time, advancements in the understanding of the pathogenetic mechanisms behind the various SPG forms are opening the way towards hypothesis-driven therapeutic attempts. This context underscores the importance of moving towards trial-readiness for this group of rare conditions.
In this Research Topic proposing a translational approach, we will encourage submissions on, but not limited to, the following sub-themes:
• Recent investigations on genotype-phenotype correlations
• Emergence of promising biomarkers potentially useful for clinical trials
• New advancements in the omics knowledge of the pathogenetic pathways leading to the impairment of the cortico-spinal tract.
This collection will serve as an update on the latest advances in the field but also as a stimulus for moving the field towards the proposal of concrete treatment strategies and the framing of well-designed and properly powered clinical trials.
Hereditary spastic paraplegias (HSP) are a group of rare clinically and genetically heterogeneous syndromes sharing the primary degenerative process of the first moto-neuron as a common characteristic.
The clinical variability reflects only part of the wide molecular heterogeneity now reaching at least 80 causative genes (Spastic Paraplegia Genes – SPG). However, thanks to more accurate phenotype investigations, the clinical profile of the various SPGs is becoming more articulated, blending the original separation between pure and complicated forms and adding details in systems beyond the corticospinal one.
At the same time, advancements in the understanding of the pathogenetic mechanisms behind the various SPG forms are opening the way towards hypothesis-driven therapeutic attempts. This context underscores the importance of moving towards trial-readiness for this group of rare conditions.
In this Research Topic proposing a translational approach, we will encourage submissions on, but not limited to, the following sub-themes:
• Recent investigations on genotype-phenotype correlations
• Emergence of promising biomarkers potentially useful for clinical trials
• New advancements in the omics knowledge of the pathogenetic pathways leading to the impairment of the cortico-spinal tract.
This collection will serve as an update on the latest advances in the field but also as a stimulus for moving the field towards the proposal of concrete treatment strategies and the framing of well-designed and properly powered clinical trials.
Keywords: Paraplegia, clinic, diagnosis, therapy, HSP, hereditary spastic paraplegias, translational
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.
