Objective
To identify clinically homogenous groups of patients affected by dysmyelinating diseases.
To search new biochemical diagnostic markers of dysmyelinogenesis process.
To identify molecular defects involved in X-linked and recessive forms of dysmyelinating diseases.
To test on X-linked dysmyelinated mutant mice different strategies for CNS myelin repair.
This European network will be developed by 4 different approaches:
The clinical approach will include 11 different neuropediatric European centers, with the aim to identify clinically homogeneous groups of patients affected by a dysmyelinating process among hereditary spastic paraplegia, ataxia, nystagmus, or leucodystrophies without etiology using a prospective study.
New diagnostic markers of the dysmyelinogenesis process will be searched using nuclear magnetic resonance (NMR) imaging and proton NMR spectroscopy coupled with capillary electrophoresis in dysmyelinating mutant mice and affected patients.
The molecular biology approach will include: (1) fundamental studies on CNS myelin proteins (proteolipoproteins (PLP), myelin olygodendrocyte glycoprotein), (2) analysis of transgenic mice mutated in different myelin protein genes (PLP, M6B), (3) studies on patients affected by brain dysmyelinating diseases by testing involvement of brain myelin protein genes.
Different strategies for brain myelin repair will be tested in X-linked PLP mutant mice mimicking the different phenotypes observed in human, using combined gene and cell therapy with transplantation of myelin-forming cells.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- natural sciences biological sciences biochemistry biomolecules proteins
- natural sciences physical sciences optics spectroscopy absorption spectroscopy
- medical and health sciences clinical medicine transplantation
- medical and health sciences medical biotechnology cells technologies
- natural sciences biological sciences molecular biology
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Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
63001 Clermont-Ferrand
France
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