Cel Neurodegenerative disorders, a heterogeneous group of chronic progressive diseases, are among the most puzzling and devastating diseases in medicine. Indeed they are characterized by onset in adult life, distinct clinical phenotypes, and specific degeneration of subsets of neurons and axons. Hereditary spastic paraplegia (HSP) is a disorder that results in progressive weakness and spasticity of the lower limbs affecting approximately 1 in 10000 individuals. Heterogeneity characterizes HSP in both clinical and genetic aspects. Little is known about the pathogenesis of HSP and consequently no specific treatment is available to prevent, cure or delay progression of symptoms of HSP. Electrophysiological and pathological findings point to the corticospinal, dorsal columns and spinocerebellar fibers as the structures primarily affected by HSP. Two main pathogenetic hypotheses for the neurodegeneration seen in HSP, as well as other neurodegenerative conditions, have recently emerged, suggesting that impaired mitochondrial function and/or defective subcellular transportation mechanics play a crucial role. In fact, HSP-causing mutations have been found in gene products involved in mitochondrial function, such as paraplegin and HSP60, and axonal trafficking, such as kinesin and, possibly, spastin and spartin. This consortium of European groups intends to provide a multi-faceted comprehensive approach to study pathogenesis of HSP with a particular emphasis on the role of mitochondrial dysfunction and impaired axonal transport, through the production and characterization of six novel mouse models for this disease, in parallel with the recently developed paraplegin null mutant. The proposed strategy is a highly integrated effort to study the function of several HSP genes, with the final goal of identifying common mechanisms leading to axonal degeneration, which will be potential targets of a therapeutic intervention in the long term. Dziedzina nauki natural sciencesbiological sciencesneurobiologynatural sciencesbiological sciencesbiochemistrybiomoleculesproteinsprotein foldingmedical and health sciencesbasic medicineneurologydementianatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicineophthalmologyretinopathy Słowa kluczowe animal model hereditary spastic paraplegia motoneuron neurodegeneration Program(-y) FP6-LIFESCIHEALTH - Life sciences, genomics and biotechnology for health: Thematic Priority 1 under the Focusing and Integrating Community Research programme 2002-2006. Temat(-y) LSH-2002-2.1.3-7 - Rare monogenic neurological disorders Zaproszenie do składania wniosków FP6-2002-LIFESCIHEALTH Zobacz inne projekty w ramach tego zaproszenia System finansowania STREP - Specific Targeted Research Project Koordynator FONDAZIONE CENTRO SAN RAFFAELE DEL MONTE TABOR Wkład UE Brak danych Adres Via Olgettina 60 MILANO Włochy Zobacz na mapie Koszt całkowity Brak danych Uczestnicy (5) Sortuj alfabetycznie Sortuj według wkładu UE Rozwiń wszystko Zwiń wszystko FONDAZIONE TELETHON Włochy Wkład UE Brak danych Adres Via G. Sliceto 5 ROMA Zobacz na mapie Koszt całkowity Brak danych AARHUS UNIVERSITET Dania Wkład UE Brak danych Adres Nordre Ringgade 1 AARHUS C Zobacz na mapie Koszt całkowity Brak danych UNIVERSITAET ZU KOELN Niemcy Wkład UE Brak danych Adres Albertus Magnus Platz KOELN Zobacz na mapie Koszt całkowity Brak danych ST GEORGE'S HOSPITAL MEDICAL SCHOOL Zjednoczone Królestwo Wkład UE Brak danych Adres Cranmer Terrace LONDON Zobacz na mapie Koszt całkowity Brak danych KLINIKUM DER FRIEDRICH-SCHILLER-UNIVERSITAET JENA Niemcy Wkład UE Brak danych Adres Bachstrasse 18 JENA Zobacz na mapie Koszt całkowity Brak danych