Latest News

Dr. Synofzik's ARSACS study to be published in the Journal of Neurology

Dr. Synofzik's ARSACS study to be published in the Journal of Neurology

“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

"Expanding the clinical description of ARSACS" – study done by ARSACS research team

"Expanding the clinical description of ARSACS" – study done by ARSACS research team

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 obtained from 35 ARSACS individuals

EMG data obtained from 35 ARSACS individuals

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.

Learning from the UNC Catalyst for Rare Diseases

Learning from the UNC Catalyst for Rare Diseases

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 Le Diner des Producteurs 2019

Invitation to Le Diner des Producteurs 2019

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.

Invitation to discover the  « New insights into cerebellar disorders »

Invitation to discover the « New insights into cerebellar disorders »

Opportunity to meet Dr. Esther Becker from University of Oxford guest speaker at the NeuroForum 2019 conference and find out the «New insights into cerebellar disorders».
The conference, organised by the Axe NeuroSciences, Centre de Recherche du CHU de Québec, will be held on Thursday 25,2019 at 11:00am at the LOEX site HEJ (Local R-138) and projected at the Amphithéâtre Fisher (Local TR-54) site CHUL.
Come and join us!

Dr. Alanna Watt

Dr. Watt's research – understanding the cerebellum

Dr. Alanna Watt talks about her lab’s research in understanding the cerebellum and the cellular changes that contribute to ARSACS in order to develop therapeutics. Presentation.

SacsR272C missense homozygous mice develop an ataxia phenotype

SacsR272C missense homozygous mice develop an ataxia phenotype

The research of Dr. Roxanne Larivière and her team supports that Sacs missense mutation largely leads to loss of Sacsin fucntion. SacsR272C missense homozygous mice develop an ataxia phenotype published in the Molecular Brain.

Next Board meeting: June 5, 2019

Next Board meeting: June 5, 2019

The next meeting of the Board of the Ataxia Charlevoix-Saguenay Foundation will be held in Montreal on Wednesday June 5,2019.

Dr. Paul Chapple

Dr. Chapple's research project update

Dr. Chapple from Queen Mary University of London provides an overview of his ARSACS research.

Dr. Maltecca expands her research

Dr. Maltecca expands her research

In addition to evaluating a post-symptomatic treatment on Sacs mice with an identified drug, Dr. Maltecca is also conducting a pre-symptomatic treatment to evaluate if such a drug can stop the neurodegeneration associated with ARSACS. Such results will be available at the end of this summer. Her work is also aimed at understanding how the drug could offer neuroprotection in ARSACS.

Dr. Anne McKinney

Dr. McKinney's research on ARSACS cells

Dr. Anne McKinney from McGill University describes her ARSACS research project focusing on how the cells of ARSACS patients communicate together and how some drugs could have an impact on the cells.

ARSACS article published in the Neuropathology and Applied Neurobiology journal

ARSACS article published in the Neuropathology and Applied Neurobiology journal

Dr. Slaven Erceg’s article “Investigating ARSACS: models for understanding cerebellar degeneration” has been published in the Neuropathology and Applied Neurobiology journal last January. Dr. Erceg is at the Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center “Principe Felipe”, Valencia, Spain.

Cynthia Gagnon

Preventive interventions and pratical tips for ARSACS patients

Dre Cynthia Gagnon presents some preventive interventions and pratical tips that could be helpful if you are affected by ARSACS. This is a general overview and you should discuss with your neurologist or medical team to ensure that some of the recommendations are applicable to you.

Dr.  Nethsisinghe' research project using skin cells

Dr. Nethsisinghe' research project using skin cells

As part of the video serie of ARSACS research projects, Dr. Suran Nethsisinghe from UCL Queen Square Institute of Neurology in London provides a short overview of his research project using skin cells.

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Interested in doing research on ARSACS ?

Interested in doing research on ARSACS ?

This is a special invitation to submit your research proposal. Each year, the Foundation offers annual research fellowships that will advance the understanding of the disease and lead to a treatment. A maximum of $100,000 for a period of one year with possibility of renewal for a second year. An application for a specific project could include several labs in Canada or elsewhere. In such a case, the $100,000 limit would not apply.
Deadline to send your proposal: Friday May 24,2019.
Application and Appendix

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Launch of the International ARSACS Patient Registry

Launch of the International ARSACS Patient Registry

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.

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Our Annual Fundraiser