The network

SPATAX network 2009

SPATAX network 2009

SPATAX 2013

SPATAX 2013

Coordinators

Pr Alexandra Durr (ICM)
Co-coordinator for the genetic studies: Dr Giovanni Stevanin (ICM and EPHE)

Members of the network

1/ Institut du Cerveau et de la Moelle épinière

the ICM team

Pr Alexandra Durr

Pr Giovanni Stevanin

Pr Alexis Brice

Dr Frédéric Darios

Dr Christel Depienne

Dr Annie Sittler

Ms Lydia Guennec

Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater suggesting further genetic heterogeneity. These progressive disorders are often severe and fatal, due to the absence of specific therapy. The SPATAX network combines the experience of European clinicians and scientists working on these groups of diseases.

Over the past year, they have assembled the largest collection of families and achieved a number of tasks (initiation of a clinical and genetic database, distribution of DNA to participating laboratories, mapping of three new loci, and refinement of several loci). In addition to clinicians from Europe and Mediterranean countries, who play a major role in collecting families according to evaluation tools developed and validated by the SPATAX members, the group includes major European laboratories devoted to the elucidation of the molecular basis of these disorders. Each laboratory will centralize all families with a subtype of autosomal recessive (AR) CA (n=116) or SP (n=207) in order to efficiently map and identify the responsible gene(s). Genome-wide scans are already underway in 61 families. Given the expertise of the participants, the researchers expect to map and identify several genes during the course of this project. The spectrum of mutations and phenotype/genotype correlations will be analysed thanks to this unique series of patients with various phenotypes. The knowledge gained will be immediately applicable to patients in terms of improved positive diagnosis, follow-up and appropriate genetic counselling.

In the long term, models for genetic entity will be developed in order to understand the pathophysiology and to identify new targets for treatment. The series of patients assembled and the precise knowledge of natural history will facilitate the implantation of therapeutic trials based on rational approaches.

2/ Other French Members

Pitié-Salpêtrière Hospital, Paris, France

DNA and Cell bank, ICM

Dr. Sylvie Forlani

Fédération de Génétique, APHP

Dr. Perrine Charles (Consultation de Génétique Clinique)

Dr. Guillaume Banneau (UF de Neurogénétique Moléculaire et Cellulaire)

Dr. Cécile Cazeneuve (UF de Neurogénétique Moléculaire et Cellulaire)

Pr. Alexis Brice (Centre de Référence des Maladies Neurogénétiques de l’Adulte)

Laboratoire de Neurogénétique de l’Ecole Pratique des Hautes Etudes (EPHE)

Pr. Giovanni Stevanin (http://epheneurogeneticsteam.wordpress.com/)

Others

Dr. Jean-Philippe Azulay (Service de Neurologie et Pathologies du Mouvement Hôpital d’Adultes de la Timone, Marseille)
Pr. Odile Boesfplug-Tanguy (Service de neurologie pédiatrique et des maladies métaboliques – Hôpital Robert Debré, Paris & UMR Inserm 931 Faculté de Médecine, Clermont-Ferrand)
Dr. Cyril Goizet (Consultation de Neurogénétique CHU de Bordeaux, Hôpital Pellegrin, Bordeaux)
Pr. Didier Hannequin (Unité de Génétique Clinique Hôpital Charles Nicolle, Rouen)
Dr. Jamilé Hazan (INSERM U952 Université Pierre et Marie Curie, Paris)
Pr. Michel Koenig (INSERM U964 Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Parc d’innovation, Illkirch)
Pr. Pierre Labauge (Service de Neurologie Hôpital Caremeau, Place du Professeur Debré, Nîmes)
Dr. Karine N’Guyen (Département de Génétique Médicale Unité de Génétique Clinique, Hôpital d’Enfants de la Timone, Marseille)
Dr. Diana Rodriguez (Service de Neuropédiatrie et Pathologie du Développement Hôpital Armand Trousseau-La Roche-Guyon , Paris)
Pr. Christophe Verny (Service de Génétique Département de Neurologie, Unité Charcot, CHU d’Angers, Angers)

Dr. Andrea Burgo (Laboratoire Structure-activités des biomolécules, Inserm 829, Université d’Evry-Val d’Essonne)

 

3/ Others by country

Algeria

Pr. Abdelmadjid  Hamri (Service de Neurologie Hôpital Benbadis, Constantine)
Pr. Meriem Tazir (Service de Neurologie CHU Mustapha, Place du 1er Mai, Algiers)
Dr. Soraya Belarbi (Service de Neurologie CHU Mustapha, Place du 1er Mai, Algiers)

Austria

Sylvia Boesch (Medical University, Innsbruck, Austria)

Belgium

Pr. Massimo Pandolfo (Service de Neurologie Université Libre de Bruxelles, Hôpital Erasme, Route de Lennik 808, 1070 Brussels)

Bulgaria

Dr. Velina Guergueltcheva (Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria)

Dr. Ivalo Tournev (Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria)

Colombia

Dr. Olga Lucia Pedraza Linarès (Departamento Neurociencias Faculté de Médecine, Cra. 18 No. 88-17 (Cons. 305), FUCS, HIUSJ, Bogota)

Denmark

Pr. Jørgen E.Nielsen   (Department of Medical Genetics Section of Neurogenetics, The Panum Institute, University of Copenhagen)
Dr. Kirsten  Svenstrup (Section of Neurogenetics, The Panum Institute, University of Copenhagen)

Egypt

Pr. Maha Zaki (Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo)

Germany

Pr. Lüdger Schöls (Department of Neurology and Hertie-Institute for Clinical Brain Research University of Tübingen)
Dr. Rebecca Schüle (Department of Neurology and Hertie-Institute for Clinical Brain Research University of Tübingen)

Pr. Peter  Bauer (Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tubingen)

Israel

Pr. Alexander Lossos (Department of Neurology Hadassah-Hebrew University Hospital, Ein Kerem, Jerusalem 91120)

Italy

Pr. Filippo M. Santorelli   (Molecolare e Malattie Neuromusculari, Neurogenetics Laboratory UOC Neurodegenetic e Medicina, Istituto di Neuropsichiatria Infantile (INPE), IRCCS Fondazione Stella Maris, Calambrone)
Pr. Enrico Bertini (Molecular Medicine & Dept. of Neurosciences Osp. Bambino Gesù, Roma)
Dr. Alfredo Brusco (Department of Genetics Biology and Biochemistry University of Turin, Torino)
Pr. Giorgio Casari (Vita-Salute San Raffaele University and Human Molecular Genetics Unit  San Raffaele Scientific Institute, DIBIT, Milano)
Pr. Alessandro Filla (Dipartimento Di Scienze Neurologiche Clinica Neurologica, Università Degli Studi Di Napoli Federico II, Napoli)
Dr. Enza Maria Valente (Istituto di Genetica Medica « CSS Mendel » Viala Regina Margherita 261, Roma)
Dr. Chiara  Criscuolo (Clinica Neurologica, Università Degli Studi Di Napoli Federico II, Napoli)

Dr. Giovanni Vazza (Università degli Studi di Padova, Italy)

Lebanon

Pr. André Mégarbané (Unité de génétique Médicale Université Saint-Joseph Faculté de Médecine, Campus des Sciences Médicales, Rue de Damas, BP 11-5076 Riad El Solh, 1107 2180 Beirut)

Portugal

Pr. Paula Coutinho (Serviço de Neurologia Hospital S. Sebastião, Santa Maria da Feira)

Dr. José Léal Loureiro (Serviço de Neurologia Hospital S. Sebastião, Santa Maria da Feira)
Pr. Jorge Sequeiros (UniGENe, IBMC University of Porto, Porto)
Dr. Isabel Alonso (UniGENe, IBMC University of Porto, Porto)

Morocco

Pr. Ali Benomar (Service de Neurologie B Laboratoire de Neurogénétique, Hôpital des Spécialités, Rabat Instituts, Rabat)

The Netherlands

Dr. Berry Kremer (H.P.H.  Department of Human Genetics  Radboud University Nijmegen Medical Centre, Internal postal code 849, PO Box 9101, 6500 HB Nijmegen)

Norway

Dr. Chantal Tallaksen (Department of Neurology Ullevål University Hospital, Oslo)
Dr. Anne Kjersti Erichsen (Department of Neurology Ullevål University Hospital, Oslo)

Saudi Arabia

Pr. Mustapha Salih (A.M.  Department of Pediatrics (39)  College of Medicine and KKUH, King Khalid University Hospital, PO Box 2925, Riyadh 11461)

Serbia

Pr. Vladimir S Kostic  (Institute of Neurology Clinical Centre of Serbia, str. Dr. Subotica 6A, Belgrade 11000)

Syria

Dr. Samir Roumani (Service of Neurology PO Box 5764, Damaseus)

Tunisia

Pr. Chokri Mhiri (Unité de Neurogénétique Service de Neurologie, Hôpital Habib Bourguiba, Sfax)
Dr. Amir Boukhris (Unité de Neurogénétique Service de Neurologie, Hôpital Habib Bourguiba, Sfax)

UK

Pr. Evan Reid (Department of Medical Genetics University of Cambridge, Cambridge)
Pr. Thomas Warner (University Department of Clinical Neurosciences Royal Free and University College Medical School, University College, London)
Pr. Nicholas Wood (Neurogenetics, Institute of Neurology University Department of Clinical Neurology, The National Hospital, Queen Square, London)

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