The acronym “ARSACS” enters the life of Susanna de Luca and Paolo Arrigoni when their young child was diagnosed with ARSACS. Paolo joined the Board of Directors of the Ataxia Charlevoix-Saguenay Foundation in 2018 and, after having participated in the international symposium on ARSACS in Montreal, concluded that a point of reference and support was necessary in Europe, especially since several cases have been identified.
In December 2018, these parents created the ARSACS Organizzazione Di Volontariato (ARSACS ODV) based in Milan, Italy. Like the Ataxia Charlevoix-Saguenay Foundation, it is an organisation of volunteers, with a legal status, working in close collaboration with the Foundation. ARSACS ODV wishes to increase the awareness of ARSACS in Europe, to be a point of reference and support and to help finance the research projects via the Foundation.
Dr. Brais will be presenting “New insights on ARSACS lead to a search for candidate compounds“ at the 6th International Meeting on Spastic Paraparesis and Ataxia on September 20-21 2019 in Nice, France. The program includes plenary talks from leaders in the field of spinocerebellar diseases (dominant and recessive forms of cerebellar ataxias and spastic paraplegias)
If you are interested in doing research on ARSACS, please send us your proposal by Friday May 24,2019. A maximum of $100,000 for a period of one year with possibility of renewal for a second year
Application and Appendix
On April 25th in Quebec City, Sonia Gobeil had the pleasure of meeting Dr. Esther Becker (Oxford University) and attending her conference on the cerebellum entitled “New Insights into Cerebellar Disorders”. Summary.
Dr. Cynthia Gagnon, member of the ARSACS research team, at the International Ataxia Research Conference
Dr. Cynthia Gagnon will be presenting on the Natural History, Biomarkers and Endpoints for ARSACS at the November 2019 International Ataxia Research Conference in Washington, DC
“Speech treatment improves dysarthria in multisystemic ataxia:
a raterblinded, controlled pilot-study in ARSACS” research study done by Dr. Synofzik and his research team to be published in the Journal of Neurology. To learn more about the study, interested readers can contact Dr. Matthis Synofzik directly. See Abstract
Article will be published in the Journal of the Neurological Sciences in May, 2019. The study concludes that adults with ARSACS may experience many other clinical manifestations than the most commonly described. See Article.
EMG data of 6 muscles from 35 ARSACS patients were obtained as part of Dr. Luc J. Hébert’s ARSACS research project. The analysis of these EMG data will help to better understand the problem of spasticity in ARSACS patients and could eventually open the door to new interventions targeted more on these neuro- locomotive deficiences.
The University of North Carolina (UNC) Catalyst for Rare Diseases, funded in 2016, was established as a precompetitive open research group with a mission to understand the functional phenotic manifestations of genetic mutations. This article describes the initial experiences and learning from the UNC Catalyst for Rare diseases.
Invitation to join us at the 13th edition of the Diner des Producteurs, major annual fundraising event for the Ataxia Charlevoix-Saguenay Foundation. Discover the fine cuisine prepared by guest chef Pierre Gagnaire 3 Michelin stars, wines from La Maison E. Guigal. You do not want to miss this great opportunity so reserve your table now.
The next meeting of the Board of the Ataxia Charlevoix-Saguenay Foundation will be held in Montreal on Wednesday June 5,2019.
If you or a family member has received an ARSACS diagnostic, you are invited to register. It is easy and simple.
The registry is available in 4 languages English, French Spanish and in Italian. This is a way for you to support the cause.