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Clinical, Genetical and Functional Analysis ofPeripheral Neuropathies: an Integrated Approach


The hereditary motor and sensory neuropathies (HMSN) are a clinically heterogeneous group of peripheral neuropathies with an overall prevalence of 1 in 10.000. Charcot-Marie-Tooth disease (CMT) is the most common form of HMSN and has a frequency of 1 in 2500 in Europe. CMT is a heterogeneous disease studied extensively in different research areas such as neurology, neuropathology, neurobiology and genetics. Other forms of HMSN and related disorders, such as the hereditary neuropathy with liability to pressure palsies (HNPP) and distal hereditary motor neuropathy (distal HMN) or spinal CMT are being studied. The objective of this BIOMED2 reinforced concerted action application is to encourage collaboration between 46 European laboratories working in the field of CMT and related peripheral neuropathies, bringing together their expertise to find solutions to the different research areas. The reinforced concerted action will be coordinated by the project leader in conjunction with the steering group. The various activities will be carried out by the European research teams in order to achieve the defined objectives and targets. The leader will centralize the data obtained in the research field anddisseminate the informations and results. The aims of the European HMSN consortium group can be summarized as: transfer of researc and diagnostic information between the members of the consortium, efficient distribution of genetic material, introduction of new methods for research and diagnostic purposes, solving problems and discussing results during annual meetings of the consortium group via oral presentations and/or poster sessions at the site of the European Society of Human Genetics, organization of topic specific workshops by sub-committees, mobility and training of young researchers, clinicians and technical staff. The aims also include: analysis and identification of gene mutations leading to the disease phenotype, study of genetic heterogeneity, correlations of genotypes and phenotypes, expression studies and transgenic models, organising genomic search projects for other loci for the rare peripheral nerve disorders.
KEYWORDS(max10): neuropathy, HMSN, CMT, HNPP, heterogeneity, neurology, neurogenetics,neurobiology,neuropathology,transgenes

Funding Scheme

CSC - Cost-sharing contracts


Universitaire Instelling Antwerpen - Universiteit Antwerpen
1,Universiteitsplein 1
2610 Wilrijk