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.