SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias

Summary

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.

Conditions

• Cerebellar Ataxias
• Spastic Paraplegias

Sponsors & Collaborators

• Institut des Maladies Rares

  collaborator UNKNOWN

• National Research Agency, France

  collaborator OTHER

• Paris Brain Institute (ICM)

  collaborator OTHER

• Institut National de la Santé Et de la Recherche Médicale, France

  lead OTHER_GOV

Principal Investigators

• Alexandra Dürr, MD, PhD · Assistance Publique - Hôpitaux de Paris

• Alessandro Filla, MD, PhD · Federico II University

• André Mégarbané, MD · Université Saint-Joseph

• Ali Benomar, MD, PhD · CHU de Rabat

• Christophe Verny, MD · University Hospital, Angers

• Didier Hannequin, MD, PhD · Hôpitaux de Rouen

• Diana Rodriguez, MD · Assistance Publique - Hôpitaux de Paris

• Enrico Bertini, MD · Università de Roma

• François Tison, MD, PhD · Hôpitaux de Bordeaux

• Jorgen E Nielsen, MD, PhD · The Panum Institute

• Mustapha Salih, MD · College of Medicine and KKUH

• Miriem Tazir, MD, PhD · Université d'Alger

• Nicholas W Wood, MD, PhD · Institute of Neurology

• Odile Boespflug-Tanguy, MD, PhD · Hôpitaux de Clermont-Ferrand

• Jean-Philippe Azulay, MD, PhD · Assistance Publique - Hôpitaux de Marseille

• Paula Coutinho, MD, PhD · Universidade do Porto

• Pierre Labauge, MD, PhD · Hôpitaux de Nîmes

• Pierre Pollak, MD, PhD · Hôpitaux de Grenoble

• Thomas T Warner, MD, PhD · University College, London

• Alexander Lossos, MD · Hadassah-Hebrew University Hospital

• Cyril Goizet, MD, PhD · Hôpital Pellegrin

• Patrick Calvas, MD, PhD · Hôpital Purpan

• Berry Kremer, MD · Radboud University Medical Center

• Vladimir Kostic, MD · Clinical Centre of Serbia

• Chokri Mhiri, MD · Hôpital Habib Bourguiba

• Massimo Pandolfo, MD, PhD · Université Libre de Bruxelles - Hôpital Erasme

• Jorge Sequeiros, MD, PhD · Universidade do Porto

• Chantal ME Tallaksen, MD, PhD · Ullevaal University Hospital

Eligibility

Min Age

2 Years

Max Age

70 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2004-02-10

Primary Completion

2020-12-31

Completion

2020-12-30

Countries

• Algeria
• Belgium
• Denmark
• France
• Israel
• Italy
• Lebanon
• Morocco
• Netherlands
• Norway
• Portugal
• Saudi Arabia
• Serbia
• Tunisia
• United Kingdom

Study Locations