International conference on spinocerebellar degenerations of the SPATAX / ASG / EFACTS networks

LINK to IMAGES of the event, AWARDS etc…: follow the link  here


June 11-13, 2013

Organized by

cropped-logo_grand.png   The Network of hereditary forms of SPAstic paraplegias and cerebellar ATAXias (SPATAX)


  The Ataxia Study Group (ASG)


The European Friedreich’s Ataxia consortium for Translational Studies (EFACTS)

Supported by


LOCATION: The symposium will take place at the Brain and Spine Institute (Pitié-Salpêtrière Hospital, Paris, France)


REGISTRATION (at the bottom of the page): FULL on June 6.


Scientific and Social Planning

PDF version (with full authors list)

June 11, 2013

18.30 Welcome and presentation of the conference (Alexandra Durr, Holm Graessner, Alexis Brice and Giovanni Stevanin)

18.40-19.30 Plenary conference by Huda Zoghbi (Baylor College of Medicine, Houston, USA) on cerebellar ataxias

19.40 Cocktail buffet offered by ENP (Ecole des Neurosciences Paris Ile-de-France)

June 12, 2013

8.30-10.00 Session on dominant ataxias (Chairs: Thomas Klockgether, Germany; Bart Van de Warrenburg, The Netherlands)

Plenary conferences (25’ + 5’ questions)

  • Henry Houlden (University College London Institute of Neurology, UK) “Diagnostic exome sequencing for the spinocerebellar ataxias”
  • Willeke van Roon-Mom   (Leiden University Medical Center, The Netherlands) “Using antisense oligonucleotides to reduce or modify the disease causing proteins in autosomal dominant spinocerebellar ataxias”
  • Peter Breuer (University of Bonn Medical Center, Germany) “A functional role for calpains in the aggregation of Ataxin 3”

10.00-10.30 Coffe break and posters session

10.30-12.00 Abstract session on dominant ataxias

(Chairs: Thomas Klockgether, Germany; Bart Van de Warrenburg, The Netherlands)

10.30 Jacobi H. (University of Bonn, Bonn, Germany): Prospective study of individual at-risk for SCA1, SCA2, SCA3 and SCA6 (RISCA)

10.45 Di Gregorio E. (University of Torino, Torino, Italy): A novel form of Spinocerebellar Ataxia (SCA) linked to chromosome 6

11.00 Raskind W.H. (Psychiatry University of Washington School of Medicine, Seattle, USA): A novel spinocerebellar ataxia with hematologic cytopenias: linkage analysis and exome sequencing identifies a candidate gene

11.15 Chen D-H. (University of Washington School of Medicine, Seattle, USA): Pathogenesis and disease course of spinocerebellar ataxia type 14 in a mouse model

11.30 Sittler A. (CRicm, Paris, France): Selective autophagic-lysosome deregulation in spinocerebellar ataxia 7

11.45 Pereira MC. (University of Porto, Porto, Portugal): Large scale functional RNAI screen in C.elegans reveals candidate modifier genes for Cacna1a

12.00-13.00 Buffet and posters session

13.00-15.00 Session on recessive and spastic ataxias (Chairs:  Alexis Brice, France; Filippo Santorelli, Italy)

 Plenary conferences (25’ + 5’ questions)

  • Peter Bauer (University of Tübingen, Germany) “Gene panel sequencing for hereditary ataxias: A tool for research and diagnostics”
  • Tiziano Verri (University of Salento, Italy) “Comparative analysis, functional mapping of SACS mutations and novel insights into sacsin architecture”
  • Sacha Vermeer (University Medical Centre Nijmegen, The Netherlands) “ANO10 and beyond”
  • Mathieu Anheim (CHU de Strasbourg, France) “Algorithm for the diagnosis of autosomal recessive cerebellar ataxia”

15.00-15.30 Coffee Break and posters session

15.30-17.00 Abstract session on recessive ataxias (Chairs: Michel Koenig, France; Filippo Santorelli, Italy)

15.30 Ali-Pacha L. (CHU Mustapha Bacha, Algiers, Algeria): Autosomal recessive cerebellar ataxias: clinical and genetic study of 188 patients

15.45 Mallaret M. (Hôpital de Hautepierre, Strasbourg, France): The tumor suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

16.00 Brusco A. (University of Torino, Torino, Italy): A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

16.15 Babin P.J. (University of Bordeaux, Talence, France): Transient knockdown of zebrafish abhd12 provides a new genetic for the study of neurodegenerative disease PHARC

16.30 Synofzik M. (Hertie Institute for Clinical Brain Research Tübingen, Germany): Videogame-based coordinative training improves motor performance in children with degenerative ataxia
 16.45 Salih M.A. (College of Medicine, King Saud University, Riyadh, Saudi Arabia): PLA2G6 gene mutation cause evolving spinocerebellar ataxia influenced by the genotype

17.00-17.30 Posters session

17.30-18.00 Plenary conference by Giorgo Casari (San Raffaele University, Milan, Italy), More SCA28, indeed… “

From 20.15 Gala dinner at the Institut du Monde Arabe (IMA) with Musical ambiance by Jérôme Yelnik and the Monday’s quartet: Welcome to all registered attendees ! ACCES link

June 13, 2013

9.00-10.30 Session on spastic paraplegias (1)

(Chairs: Ludger Schöls, Germany; Jamilé Hazan, France; Evan Reid, UK)

Plenary conferences (25’ + 5’ questions)

  • Stephan Züchner (University of Miami, USA) “Exome approach in the identification of new genes”
  • Elena Rugarli (University of Cologne, Germany) “Novel insights on spastin function”
  • Fanny Mochel (CRicm, France) “Spastic paraplegia and metabolic disorders: a focus on lipid metabolism”

10.30-110.00 Coffee break and posters session
11.00-12.30 Abstract session on spastic paraplegias

11.30 Ruano L. (UnIGENe IBMC, Universidade do Porto, Portugal): Hereditary Ataxia and Spastic Paraplegia in Portugal: a population-based prevalence study

11.45 Sobrido M.J. (Fundación Pública Galega de Medicina Xenómica, Instituto de Investigaciones Sanitarias Santiago de Compostela (IDIS)-SERGAS, Spain): Our experience with next generation sequencing of target genes in hereditary spastic paraplegias and spastic ataxias

12.00 Lavie J. (University of Bordeaux, Talence, France): Role of REEP1 (SPG31) in mitochondrial structure and energetic function

12.15 O’Kane C.J. (University of Cambridge, Cambridge, UK): REEP and reticulon mutant phenotypes in Drosophila

12.30 Wedding I.M. (Oslo University Hospital, Oslo, Norway): Paraplegin mutations cause progressive external ophtalmoplegia with multiple mitochondrial DNA deletions in skeletal muscle

12.45 Di Bella D. (Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy): Molecular analysis of FA2H gene mutations in patients with spastic paraplegia

12.45-14.00 Buffet and posters session

14.00-16.00 Session on spastic paraplegias (2) 

(Chairs:Ludger Schöls, Germany; Jamilé Hazan, France; Evan Reid, UK)

Plenary conferences (25’ + 5’ questions)

  • Margaret Robinson (University of Cambridge, UK) “AP-4 and AP-5: two related protein complexes mutated in spastic paraplegias”
  • Craig Blackstone (National Institutes of Health, USA) “Defects in lipid/sterol metabolism as a common theme”
  • Christian Beetz (University of Jena, Germany) “A novel model for hereditary spastic paraplegia”
  • Evan Reid (University of Cambridge, UK) “Co-ordination of endosomal recycling with degradation via an ESCRT-spastin interaction”

16.00-16.30 Coffee break and posters session

16.30-18.00 Abstract session on spastic ataxias and X-linked forms

(Chairs: Paola Giunti, UK; Alexis Brice, France)

16.30 Pilliod J. (University of Bordeaux, Talence, France): Genetic and functional studies of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

16.45 Soehn A.S. (University of Tübingen, Tübingen, Germany): Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

17.00 Brais B. (Laboratory of neurogenetics of motion, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada) – Sacsin knockout mice amnifest clinical and pathological features of ARSACS

17.15 Coutelier M. (CRicm, Paris, France): GSN, a new candidate gene in autosomal dominant spastic cerebellar ataxia

17.30 Zanni G. (Bambino Gesù Children’s Hospital, (IRCCS), Rome, Italy): Mutation of plasma membrane Ca2+ ATPase isoform in a family with X-linked congenital cerebellar ataxia repairs Ca2+ homeostasis

17.45 Hong Jiang H. (Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China): A gene identified as a novel causative gene of X-linked ataxia using LEC strategy.

18.00-18.15 Presentation awards (500€) granted based on votes by all participants.

 Platform award, offered by the Tom Wahlig Stiftung

Poster award, offered by GATC Biotech

Student award, offered by Ecole Pratique des Hautes Etudes (EPHE)

18.15 End of the conference. Removal of posters


18.15-19.45 EFACTS board meeting (board members of EFACTS only)

18.15-19.45 LIGENAX meeting (members of LIGENAX only)



Association Connaitre les Syndromes Cérébelleux
Ecole des Neurosciences de Paris Ile-de-France
Association Strümpell-Lorrain
Tom Wahlig Stiftung
Association Française Ataxie de Friedreich
Ecole Pratique des Hautes Etudes
Hereditary Spastic Paraplegia Support Group UK
Brain and Spine Institute
Mairie de Paris
GATC Biotech
Associazione Italiana Vivere la Paraparesi Spastica Onlus (A.I. Vi.P.S. Onlus)
EUROSCA consortium
ROCHE diagnostics
DIM Cerveau et pensée
Institut CARNOT