Activities and events

Following are the major activities or past events in 2017


A message from Dr. Brais


“The high throughput screening platform of the Institute for Research in Immunology and Cancerology (IRIC) is accelerating its screening of molecules using a model derived from fibroblasts of patients with ARSACS. This fall they screened more than 12 000 molecules tested! The validations will follow in early 2018. Because the research is healing! Merry Christmas”.


Summary of progress made by Dr. McKinney & Dr. Watt’s research team on ARSACS, a project funded by the Foundation.



“To my colleagues, friends and family,
I am asking you to raise money for a cause that is close to my heart, but also to make you aware of this disease, autosomal recessive spastic ataxia Charlevoix-Saguenay, which affects my nephew and my niece. The money raised will be donated to the Charlevoix-Saguenay Ataxia Foundation. It gives all people with the disease and their families hope and hope to find and develop treatment for this disease.
Thank you in advance for your generosity. For my two loves, Maxine Blackburn, 6 years old and Lennox Blackburn, 4 years old.
Aunt Sarah “

Sarah Blackburn

Update from Dr. Durham's lab


Latest update from Dr. Durham and Dr. Benoit, researchers working on ARSACS.


Dr. Gehring progress report

See Dr. Gehring’s progress report “Integrated structural studies of sacsin using electron microscopy and crystallography”. This is one of the projects funded by the Foundation.



Joseph-Émile Cashman Kadri, research student working with Dr. Hébert on an ARSACS project, presented the results of his study at the students’ conference of the 2017 summer fellows of the Faculty of Medicine of Laval University.

According to Dr. Hébert, “The results of this feasibility study are very interesting since they demonstrate the possibility of acquiring EMG data on muscle activation profiles in people with ARSACS. The preliminary data are also very interesting because they go in the direction of our research hypotheses that the presence of abnormally high co-contractions in the antagonistic muscles in people with ARSACS could explain the mobility difficulties. It must now be demonstrated in a larger cohort of patients (current project funded by the Foundation) and try to better understand why these deficiencies are present in order to better treat them (next step)”.


Dr. Hébert 's project report

See Dr. Hébert’s report ( available in French only).  “Caractérisation des déficiences musculaires associées aux difficultés à la marche et aux transferts chez des patients atteints d’ARSACS: de la cellule à la fonction” is one of the projects funded by the Foundation.


$905 raised at the Zumbathon!

$ 905 raised for ARSACS research thanks to the zumba dancers. The zumbathon, organized by Catherine Morel, Elizabeth St-Louis, Charlotte Boisvert and Shanlie Théroux, took place on October 26, 2017 at UQTR. Thank you to all the dancers for their participation and to the organizers of the event. Photos of the evening.


“Nothing stops François and Laurent, not even the Ataxia of Charlevoix-Saguenay. The two young brothers excel in sledge hockey which allows them to practice their favorite sport” Interview with Frédéric Lacroix – Couture, L’ express Mont-Royal, November 2017. (French version only).

Dr. Bernard Brais, a key member of the ARSACS research team since the beginning, has been named the “Personality of the week” by La Presse newspaper.
Interview by Marie-Claude Lortie from La Presse (in French only).

On October 26th, the 11th edition of the “Diner des Producteurs ” was held under the honorary presidency of Mr. Jean-Guy Desjardins, Fiera Capital. A record net amount of $ 1.2M was raised. Thank you to all those who contributed to the success of this unique evening and whose donations support medical research.

The next meeting of the Board of Directors of the Foundation Ataxia Charlevoix- Saguenay will be held on Monday December 4,2017.

Marie-Claude Desormiers, suffering from ARSACS, gave an interview in October to Sonia Gobeil of the Charlevoix-Saguenay Ataxia Foundation. Interview with Marie-Claude, a courageous and determined person.

Research on ARSACS is making progress. 2017 is the first year where therapeutic breakthroughs for this disease are emerging.
Update report prepared by Dr. Bernard Brais.

The 5 th ARSACS symposium will be held in Montreal in November 2018. Details to come.

Come and dance Zumba with us !

Catherine Morel, Elizabeth St-Louis, Charlotte Boisvert and Shanlie Théroux, 4 students at the Cegep and the University of Quebec in Trois-Rivières, organize a zumbathon on October 26, 2017 at the UQTR. All funds raised will be donated to the Charlevoix-Saguenay Ataxia Foundation. For more information contact Catherine (



It is key to spread awareness about Ataxia in order to help people with Ataxia and inspire actions toward a cure.

This year the theme is “Stumble Onto Ataxia”.  Ataxia can affect anyone, at any age. Symptom onset is unpredictable. Everybody should know about the disease to recognize early signs/symptoms.

Help us building that awareness in the general public.


See Dr. Hébert ‘s  final  project  report.  ( available in French only)  ” Caractérisation des déficiences, limitations d’activités et restrictions de participation ainsi que leur interrelations chez les personnes atteintes d’ataxie récessive spastique de Charlevoix-Saguenay (ARSCS) ” is one of the projects funded by the Foundation in 2016-2017.



The Foundation is very pleased to announce that 12 researchers will share close to $1M in the  2017-2018 period. This will allow them to pursue their research on ARSACS and hopefully to develop a treatment.

See list of 10 projects selected.


A Spanish family from Madrid was in Montreal in July  visiting Dr.  Bernard Brais and his research laboratory. Their son  has being diagnosed with ARSACS.

Dr. Brais  is a key member of  the ARSACS research team.






The great  initiative of the Baratta brothers, students at Selwyn House School, raised $ 1,000 for research on ARSACS  via the sale of the book “375 Mtl-joke booklet”.

Many  thanks to the young students for their  initiative and to all those who encouraged them.


See research progress report  “Investigating the link between impaired mitochondrial trafficking and calcium dysregulation in Sacs-/- Purkinje neurons”.

Dr. Maltecca ‘s  research  is one of the project funded by the Foundation.


The Foundation has received 17 applications for research fellowship for the 2017-2018 year. The Foundation would like to thank  all the applicants for their interest in ARSACS  research. The Scientific Committee would evaluate each of the applications and  a final decision concerning which research projetcs will obtain financing in 2017-2018 will be announced in July 2017.



Under Professor Paul Chapple’s leaership, the ARSACS research team has published in May 2017  a research paper  in the Human Molecular Genetics journal looking at the cytoskeleton in cells cuktured from ARSACS patients. “We have identified a cytoskeletal phenotype in skin cells from ARSACS patients. This is important as it should be possible use this cellular phenotype as a readout in assays to screen for drugs that could have potential therapeutic benefit for ARSACS” said Dr. Chapple.
The cytoskeleton is a dynamic network of filaments that pervades the cytoplasm of cells. It acts to regulate cellular shape and internal organisation, while providing the mechanical support that enables cells to divide and move. The researchers have discovered that one component of the cytoskeleton, known as intermediate filaments, has a dramatically altered organisation in skin cells from ARSACS patients. This inturn impacts on the internal organisation of these cells, as well as the machinery they use to deal with damaged and unwanted components. This research increases knowledge of what may go wrong at the cellular level in ARSACS.

On May 31st, 2 students at Selwyn House School will visit each elementary school class to tell a joke from their 375 Mtl-joke booklet. The booklet is to commemorate Montreal’s 375th anniversary and to raise funds for ARSACS. The minimum suggested contribution is $2. Get ready to roll on the floor laughing! To order the booklet, please contact Suzanne at  Jokes are in English.

As part of her PHD project, Isabelle Lessard is working on characterizing the deficiencies and physical limitations and their impact on walking in the home for individuals  with ARSACS. See Abstract  ( available only in French).


Dr. Maltecca will be presenting her  ARSACS  research data  at the EMBO workshop in China in June 2017. See Abstract.


Me Jocelyn Pilote, member of the Alma Richelieu Club, presented a  cheque of $1500 to Mrs. Nicole Fortin on behalf of the Foundation at the wine and cheese fundraising event  held in April. The Foundation thanks  the Club Richelieu, Mrs. Fortin and all the participants.

Despite the cold and the rain, the ARSACS research team  raised $2,500 on Saturday  April 22 as part of  the Scotiabank Charity Challenge Run . Special thanks to  Alanna Watt for organizing the team and to the participants and sponsors for making this event  a success. Photos of the ARSACS team


Dr.Maltecca (Italy) has  started a pilot drug treatment in the Scacs KO mouse. The results should be known in few months.


The Foundation offers annual research fellowships that will lead to a treatment for ARSACS.  A $100,000 grant could be awarded for a period of one year with possibility for renewal for a second year. Researchers interested should apply at the latest  by May 25, 2017.  Application form



Caroline, the mother of  a young girl with ARSACS, has decided to help ARSACS research by cooking and selling her products at school.  Her initiative raised $800.  Congratulations and thank you, Caroline, for your efforts.


The “Dîner des Producteurs” 2016 gets media coverage in the Montréal Centre-Ville virtual magazine.