The network

SPATAX 2013

SPATAX 2013

Coordinators

Pr Alexandra Durr (APHP, Sorbonne University)
Pr Giovanni Stevanin (INSERM, EPHE/Paris Sciences Lettres Research University)

Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 250 genes 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 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, novel gene identification, preclinical trials). In addition to clinicians who play a major role in collecting families according to evaluation tools developed and validated by the SPATAX members, the group includes major laboratories devoted to the elucidation of the molecular basis of these disorders. Given the expertise of the participants, the researchers expect to identify novel causative genes, precise the spectrum of mutations and perform phenotype/genotype correlations thanks to this unique series of patients with various phenotypes from many diverse countries around the world. The knowledge gained will be immediately applicable to patients in terms of improved positive diagnosis, follow-up and appropriate genetic counselling.

In addition, models for several genetic entities are 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 translation of therapeutic trials based on rational approaches.

Members of the network

 1/ Institut du Cerveau et de la Moelle épinière (ICM, Paris)

the ICM research team

  • Pr. Alexandra Durr
  • Pr. Giovanni Stevanin
  • Pr. Alexis Brice
  • Dr. Frédéric Darios
  • Dr. Khalid H El-Hachimi
  • Dr. Morwena Latouche

the ICM DNA and Cell bank

  • Dr. Sylvie Forlani

 

2/ Other French Members

Pitié-Salpêtrière Hospital, Paris, France

Fédération de Génétique, APHP

  • Dr. Perrine Charles (Consultation de Génétique Clinique)
  • Dr. Guillaume Banneau & Dr. Cécile Cazeneuve (UF de Neurogénétique Moléculaire et Cellulaire)
  • Pr. Alexandra Durr (Centre de Référence des Maladies Neurogénétiques de l’Adulte)
  • Dr. Marie-Lorraine Monnin (Centre de Référence des Maladies Neurogénétiques de l’Adulte)

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)
  • Pr. 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 (CHU de Montpellier)
  • Pr. Mathieu Anheim (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 & 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)
  • Dr. Urielle Ullmann (Institute of Pathology and Genetics, Gosselies)

Brazil

  • Dr. Laura Jardim (Department of Internal Medicine, Faculty of Medicine, Federal University of Rio Grande do Sul)

Bulgaria

  • Dr. Velina Guergueltcheva & Dr. Ivalo Tournev (Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria)

China

  • Pr. Bing-Wen SOONG (National University Yang-Ming, Taipei)

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

Greece

  • Dr. Georgios Koutsis & Marianthi Breza (Neurogenetics Unit, Department of Neurology, and Kapodistrian University of Athens, Eginition Hospital, Athens)

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. Enza Maria Valente (Istituto di Genetica Medica « CSS Mendel » Viala Regina Margherita 261, Roma)
  • Pr. Carlo Casali (Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome)
  • Dr. Alfredo Brusco (Department of Genetics Biology and Biochemistry University of Turin, Torino)
  • Dr. Laura Orsi (Department of Neuroscience and Mental Health- Neurological Clinic 1, Universitary Hospital Torino)
  • Pr. Giorgio Casari (Vita-Salute San Raffaele University and Human Molecular Genetics Unit  San Raffaele Scientific Institute, DIBIT, Milano)
  • Pr. Alessandro Filla, Dr. Antonella Antenora, Dr. Maria Lieto & Dr. Chiara  Criscuolo (Dipartimento Di Scienze Neurologiche Clinica Neurologica, Università Degli Studi Di Napoli Federico II, Napoli)
  • Dr. Giovanni Vazza (Università degli Studi di Padova, Italy)
  • Pr. Maria-Teresa Bassi (Eugenio Medea, Bosisio Parini)
  • Dr. Manuela Basso (Center for Integrative Biology (CIBIO), University of Trento, Povo)
  • Dr. Marinela Vavla (IRCCS Eugenio Medea Associazione La Nostra Famiglia, Conegliano)

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 & Dr. José Léal Loureiro (Serviço de Neurologia Hospital S. Sebastião, Santa Maria da Feira)
  • Pr. Jorge Sequeiros & 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)
  • Pr. Willeke Van Roon-Mom (Leiden University Medical Center)

New Zealand

  • Dr. Richard Roxburgh (Neurology Department, Auckland city hospital)

Norway

  • Pr. Chantal Tallaksen & 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)

Spain

  • Dr. Idoia Rouco Axpe (BioCruces Health research center institute, Barakaldo)

Sudan

  • Dr. Liena Elsayed (Dept of Biochemistry, Faculty of Medicine, University of Khartoum)

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)

Turkey

  • Pr. Arzu Karabay (Genetics Research center, Istanbul Technical University Molecular Biology-Biotechnology and Genetics Research center, Ayazaga campus, Maslak, Istanbul)

UK

  • Pr. Evan Reid, Dr Megan OlivaDr Cahir O’Kane (Department of Genetics, University of Cambridge, Cambridge)
  • Pr. Thomas Warner, Pr. Nicholas Wood and Dr. Suran Nethisinghe (UCL Institute of Neurology  London)

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