6th International Meeting on Spastic Paraparesis and Ataxia, September 20-21 2019 in Nice (South of France)

(Satellite meeting of the international congress of Parkinson’s disease and Movement Disorders – MDS 2019, 22-26/9/2019)


LINK to the summary, abstract book and photos of the meeting


LOCATION: Acropolis – Palais des congrès et des expositions, Nice, France



ORGANIZATION: Organized by the SPATAX network, the Ataxia Study Group and the PREPARE_Ataxia consortium


SCIENTIFIC COMMITTEE: Sylvia Boesch (Austria), Alexandra Durr (France), Filippo Santorelli (Italy), Giovanni Stevanin (France), Matthis Synofzik (Germany), Chantal Tallaksen (Norway), Bart Van de Warrenburg (Netherlands)

LOCAL COMMITTEE: Alexandra Durr (ICM, APHP, Sorbonne University, France), Giovanni Stevanin (ICM, INSERM, EPHE, Paris Sciences Lettres Research University, France).

GOAL: Members of the SPATAX Network, PREPARE_Ataxia consortium and Ataxia Study Group (ASG) and researchers from all over the world will meet in Nice from 20 to 21 September 2019 in a satellite meeting of the International Parkinson and Movement Disorder Society congress. The program includes plenary talks from leaders in the field of spinocerebellar diseases (dominant and recessive forms of cerebellar ataxias and spastic paraplegias), round tables and short talks or poster presentations from junior researchers.

ABSTRACTS: 72 abstracts (12 for oral presentation) have been selected by the scientific committee and will be published in Frontiers in Neurology.

INFORMATION & ABSTRACTS: spatax@icm-institute.org

REGISTRATION (CLOSED except for abstract presenters: PLEASE FOLLOW THIS LINK 

Registration fees (credit card only) include access to the conferences and poster zone, coffee breaks and lunches indicated in the planning (housing and travel at your own charge except invited speakers; space is limited, then register early): (i) Students (valid student card ID needed), patient representatives (1 per association) and invited speakers: free; (ii) SPATAX/ASG/PREPARE members: 210 euros; (iii) Non members or registration after July 15: 360 euros.


Gold sponsors: SPATAX, DYNACURE, E-Rare PREPARE_Ataxia, Tom Wahlig Foundation (Germany)

Silver sponsors: ADCA vereniging (Netherlands), Association Française de l’Ataxie de Friedreich (AFAF-France), Associazione Italiana Vivere la Paraparesi Spastica onlus (AIViPS-Italy), Association Strümpell Lorrain (ASL-HSP-France), Connaître les Syndromes Cérébelleux (CSC-France), EURO-HSP, National Ataxia Foundation (NAF-US), Norwegian Association for hereditary spastic paraplegia/ataxia (Naspa-Norway), ROCHE Diagnostics, Spastic Paraplegia Foundation (SPF-US), The Maddi Foundation (UK).



PROGRAM (version March 2019)

DAY 1: September, Friday 20th 2019

13:00 Welcome coffee, Registration (Opening of Poster zone)

13:45 Welcoming session by the local scientific committee

13:50 Presentation of the patient associations sponsoring the event

14:00 Plenary conferences (20’+10’ questions) Chair: Filippo Santorelli

  • Hélène Puccio (France) Recent insight into the cerebellar dysfunction in ARCA2 linked to COQ8A/ADCK3 mutations
  • Agnès Rötig (France) Impaired regulation of cytosolic iron homeostasis in Friedreich ataxia

15:00   Selected abstracts 1-3 (15’ including questions) Chair: Filippo Santorelli

  • [15] Claire Guissart (France) Pathogenic ATG7 variants cause recessive cerebellar ataxia
  • [45] Eduald Balagué Cabasés (Spain) Single-intrathecal delivery of a new AAV9-mediated gene therapy vector provides long-term safe expression of frataxin and prevents neurodegeneration in a Friedreich Ataxia mouse model.
  • [65] Andrea Del Bondio (Italy) A pharmacological treatment acting on calcium homeostasis improves motor ability and delays Purkinje cell loss in the ARSACS mouse model

15:45 – 16:30 Coffee break and Poster session 1

16:30 Plenary conferences (20’+10’ questions) Chair: Frédéric Darios

  • Fanny Mochel (France) Metabolic forms of neurodegenerative disorders
  • Frederic Vaz (Netherlands) Characterization of lipid metabolism in hereditary spastic paraplegias using lipidomics

17:30   Selected abstracts 4-5 (15’ including questions) Chair: Frédéric Darios

  • [54] Matthis Synofzik (Germany) Neurofilaments as blood biomarkers at the preataxic and ataxic stage of spinocerebellar ataxia type 3: a cross-species analysis in humans and mice
  • [75] Alexandra K. Davies (Germany / UK) Organellar proteomics to investigate the mechanism that underlies the neuronal pathology of AP-4 deficiency

18:00 Networks news (8’ each with 10’ final discussion) Chair: Alexis Brice

  • Thomas Klockgether (Germany) SCA global
  • Matthis Synofzik (Germany) ARCA global
  • Rebecca Schüle (Germany) TreatHSP.net and the Alliance for Treatment in HSP and PLS
  • Alexandra Durr (France) Spatax database to setup a TransNational HSP network
  • General discussion (10 mn)

18:50 End of the meeting (Poster zone closed)

20:00 – 00:00 Social Spatax-Prepare event in Nice

Location: MAMAC (Museum of Modern and Contemporary Art), Place Yves Klein, Nice

(Including a debriefing with patient associations representatives with the scientific committee)

DAY 2: September, Saturday 21st 2019

8:30 Welcome coffee (Opening of Poster zone)

9:00 Plenary conferences (20’+10’ questions) Chair: Sylvia Boesch

  • Rebecca Schüle (Germany) IP3 Receptor Degradation – A Mutational Hotspot for Hereditary Ataxia and Motor Neuron Disease
  • André Van Kuilenburg (Netherlands) Glutaminase deficiency, a Novel Repeat Expansion Disorder identified through Deep Phenomics and Genomics

10:00 Selected abstract 6 (15’ including questions) Chair: Sylvia Boesch

  • [7] Daniele Galatolo (Italy) SCA48: molecular and clinical features of novel cases in a multicentre Italian cohort

10:15 – 11:00 Group photo, Coffee break and Poster session 2

11:00 Plenary conferences (20’+10’ questions) Chair: Antoni Matilla Dueñas

  • Henry Houlden (Great Britain) A novel repeat involved in CANVAS
  • Isabel Silveira (Portugal) A non-coding repeat insertion causes spinocerebellar ataxia type 37
  • Juan Bonifacio (United-States) Novel Insights into AP-4-Deficiency Syndrome

12:30 Selected abstract 7 (15’ including questions) Chair: Antoni Matilla Dueñas

  • [56] Almudena Avila-Fernandez (Spain) Pathogenic RCF1 repeat expansion: a frequent cause of late-onset ataxia in Spanish population

12:45 – 14:00 Lunch offered to all participants and Poster session 3

14:00 Plenary conferences (20’+10’ questions) Chair: Chantal Tallaksen

  • Gulin Oz (United-States) MRI and MRS readouts in Spinocerebellar Ataxias

14:30 Selected abstracts 8 and 9 (15’ including questions) Chair: Chantal Tallaksen

  • [52] Judith van Gaalen (The Netherlands) Gait-related functional MRI changes at the preclinical stage of SCA3
  • [72] Adam P. Vogel (Australia, Germany, Cuba, Chile) Speech and swallowing deficits are detectable at the pre-ataxic stage of Spinocerebellar Ataxia Type 2

15:00 Plenary conferences (20’+10’ questions) Chair: Matthis Synofzik

  • Bernard Brais (Quebec) New insights on ARSACS lead to a search for candidate compounds
  • Frédéric Darios (France) From physiopathology to preclinical trials in SPG11

16:00 – 17:00 Coffee break and Poster session 4 (Poster votes and poster removal at 17:00)

17:00 Round-Table Discussion on Therapy (15’ or 10’ presentation, 40’ discussion with the public) Chair: Bart Van de Warrenburg

Invited scientist (15’ presentation)

  • Lucy Vincent (France) Dance for ataxias and spastic paraplegias
  • Matthis Synofzik (Germany) Exergames and physiotherapy
  • Alexander Geurts (Netherlands) Potential effects of botulinum toxin in patients with pure HSP

 Selected abstracts (10’ presentation)

  • [38] Roderick P.P.W.M. Maas (The Netherlands, Germany) Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study
  • [27] Andrea Martinuzzi (Italy) Safety and efficacy of Interferon γ in Friedreich ataxia: a pilot trial with clinical and paraclinical endpoints
  • [70] Fabricio Diniz de Lima (Brazil) A double-blind, randomized, placebo-controlled, crossover trial of botulinum toxin type A in hereditary spastic paraplegia – the SPASTOX trial

18:55 – 19:00 Closing ceremony – Prizes for the best posters

Sponsored by: SPATAX, E-Rare PREPARE_Ataxia, DYNACURE, Tom Wahlig Foundation, Spastic Paraplegia Foundation US, ASL-HSP-France, AIViPS-Italy, CSC, NASPA, The Maddi Foundation, ADCA vereniging Nederland, AFAF, ROCHE, EURO-HSP, National Ataxia Foundation US


LINK to the summary, abstract book and photos of the meeting