Skip to main content

European network on brain dysmyelinating diseases:diagnostic, molecular and therapeutic approach

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.

Funding Scheme

CSC - Cost-sharing contracts

Coordinator

Université d'Auvergne - Clermont-Ferrand 1
Address
49,Boulevard Gergovia
63001 Clermont-ferrand
France

Participants (5)

Centre National de la Recherche Scientifique
France
Address
5,Rue Blaise Pascal
67084 Strasbourg
Centro Spezializzato della Regione Veneto
Italy
Address
Via Ospedale Civile 18
31033 Castelfranco Veneto
Institut National de la Recherche Agronomique
France
Address

63122 Saint-genès-champanelle - Ceyrat
RUPRECHT-KARLS-UNIVERSITAET HEIDELBERG
Germany
Address
Im Neuenheimer Feld 282
69120 Heidelberg
Université Pierre et Marie Curie - Paris VI
France
Address
47,Boulevard De L'hôpital
75651 Paris