Hereditary spastic paraplegias (HSP) are a group of rare clinically and genetically heterogeneous syndromes sharing the primary degenerative process of the first motorneuron as a common characteristic.
The variety of the proteins involved, given the 55 genes thus far identified, represent a challenge both in terms of comprehension of the molecular pathogenesis and in terms of clinical physiopathology. Various metabolic pathways emerge as potential avenues along which the molecular defects become the disease. The cellular target and the degenerative nature of the process make the HSPs a specially interesting topic in the perspective of more frequent neurodegenerative conditions of the nervous system.
Cellular and animal models can be exploited in the attempt to navigate and solve the maze of HSP and to bring the patients an effective treatment. Similarly, the deep phenotyping of patients with the various forms of HSP provides clues for the comprehension of the disease process.
In this Research Topic, we will cover some of the leading hypotheses unifying or differentiating the various forms of HSP starting from the data originated in the lab and moving to the clinic. This collection will serve as an update on the latest advances in the field but also as a stimulus for further research aimed at the understanding of the pathological processes and at the identification and test of effective therapies.
Hereditary spastic paraplegias (HSP) are a group of rare clinically and genetically heterogeneous syndromes sharing the primary degenerative process of the first motorneuron as a common characteristic.
The variety of the proteins involved, given the 55 genes thus far identified, represent a challenge both in terms of comprehension of the molecular pathogenesis and in terms of clinical physiopathology. Various metabolic pathways emerge as potential avenues along which the molecular defects become the disease. The cellular target and the degenerative nature of the process make the HSPs a specially interesting topic in the perspective of more frequent neurodegenerative conditions of the nervous system.
Cellular and animal models can be exploited in the attempt to navigate and solve the maze of HSP and to bring the patients an effective treatment. Similarly, the deep phenotyping of patients with the various forms of HSP provides clues for the comprehension of the disease process.
In this Research Topic, we will cover some of the leading hypotheses unifying or differentiating the various forms of HSP starting from the data originated in the lab and moving to the clinic. This collection will serve as an update on the latest advances in the field but also as a stimulus for further research aimed at the understanding of the pathological processes and at the identification and test of effective therapies.