Joint Transnational Call 2007 (JTC2007)


The E-Rare EUROSPA project project is a European and Mediterranean network dedicated to research on Hereditary Spastic Paraplegias (HSP). HSP are a clinically and genetically heterogeneous group of rare diseases in which affected corticospinal tracts provoke a functional gait handicap frequently associated to various other neurological symptoms. Very few symptomatic treatments exist against those disabling diseases, leading to the social isolation of the patients and their families. Improving this situation was the key objective of the EUROSPA project, with the strategy to focus on unraveling the genetic basis of the clinical heterogeneity of HSPs and providing a sharp phenotypic description of each genetic entity.

This transnational project was based on the networking of four reference clinical and research teams led by Pr Alexis Brice (Paris, France), EUROSPA coordinator, Pr Ludger Schöls (Tübingen, Germany), Pr Filippo Santorelli (Rome, Italy) and Pr Alexander Lossos (Jerusalem, Israel). The force of EUROSPA was to combine the biological resources, manpower, knowledge and expertise gained by those four member teams within 3 national networks, ITASPA (Italy), IHSPD (Israel), GeNeMove (Germany) and the international SPATAX network (France), devoted respectively to spinocerebellar degenerations mainly. The added value of EUROSPA was its focus on HSPs and its extended geographical coverage including Europe, North Africa and Middle East, with the largest collection of recruited HSP families known worldwide (>1500). Based on those assets, the main following aims were pursued: (1) to improve clinical assesment by the development of a common clinical chart, (2) to enlarge the clinical and molecular spectrum of known HSP genes through wide genetic testing,; (3) to identify new loci and responsible genes and (3) to establish genotype-phenotype correlations in the largest number of sampled families and improve the nosology of these complex disorders.

The Partners: a) define and implement a common EUROSPA chart for clinical evaluations, b) exchanged researchers between participants, c) shared biological material allowing the identification of 3 new loci (SPG36, SPG46, SPG49), 6 new genes (SPG28, SPG30, SPG46, SPG47, SPG48 and SPG49) and the establishment of phenotype-genotype correlations in multiple clinico-genetic forms (SPG3,5,8,10,11,15,31,42) reported in >30 international publications, including 11 involving multiple EUROSPA partners.

The results of those studies will offer to HSP patients and families an increased possibility for a molecular diagnosis. They will also give new clues to understand the deleterious cellular mechanisms involved in the pathology, from which to gain the fundamental knowledge needed for future curative treatments.

  • Brice, Alexis (Coordinator)
    INSERM, Unit 679 Pitié-Salpêtrière Hospital [FRANCE]
  • Lossos, Alexander
    Hadassah-Hebrew University Medical Center, Neurology [ISRAEL]
  • SANTORELLI, Fillipo
    IRCCS Children’s Hospital Bambino Gesù Molecular Medicine [ITALY]
  • Schöls, Ludger
    University of Tübingen Department of Neurology and Hertie-Institute for Clinical Brain [GERMANY]