{"id":12650,"date":"2021-04-14T21:14:20","date_gmt":"2021-04-14T21:14:20","guid":{"rendered":"https:\/\/clone.arsacs.com\/?page_id=12650"},"modified":"2026-04-16T11:24:13","modified_gmt":"2026-04-16T15:24:13","slug":"recherche","status":"publish","type":"page","link":"https:\/\/2026.arsacs.com\/fr\/research\/","title":{"rendered":"Recherche"},"content":{"rendered":"
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Ataxia Charlevoix-Saguenay Foundation<\/h2>\n

In 2006, the Foundation was created and funded the first research to be undertaken since the identification of the Ataxia gene in 2000. It was crucial to begin research in order to discover a treatment for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).<\/p>\n

Since its creation, the Foundation has funded several research projects related to this neurological disorder. The Foundation is a charitable organization with no employees and is supported entirely by private donations and volunteers who support the cause. The total administration costs are less than 2% of the funds raised which allow almost all the funds to be totally dedicated to research.<\/p>\n<\/div><\/div>\n\n

View Research Projects Reports<\/a><\/div>\n<\/div>\n\n
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Research Objectives<\/h2>\n

The main research objective of the Ataxia Charlevoix-Saguenay Foundation is to develop a treatment for ARSACS. Every year the Foundation financed several research projects in Canada and abroad. The efforts of the Foundation are concentrated currently in three main research areas:<\/p>\n<\/div><\/div>\n\n

\uf0c3<\/span><\/span><\/div>

Financing of several promissing research projects with reearchers that are experts in this field.<\/h4><\/div><\/div><\/div>\n\n
\uf0c3<\/span><\/span><\/div>

Forming partnerships with other organizations and pharmaceutical companies to further the understanding of this disease and conduct independent research.<\/h4><\/div><\/div><\/div>\n\n
\uf0c3<\/span><\/span><\/div>

Conducting clinical trials<\/h4><\/div><\/div><\/div>\n\n

Scientific Advisory Board<\/h2>\n

All applications for research grants are evaluated by the Scientific Advisory Board of the Ataxia of Charlevoix-Saguenay Foundation according to specific criteria.<\/p>\n<\/div><\/div>\n<\/div>\n\n

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Subventions de recherche<\/h2>\n

To further encourage and accelerate the development of a treatment for ARSACS, the Ataxia Charlevoix-Saguenay Foundation provides grants and opportunities to researchers.<\/p>\n

This year, the call for proposals of the Ataxia of Charlevoix-Saguenay Foundation is jointly supported by the \u201cRichardson Research Fund\u201d to fund ARSACS research projects.<\/p>\n

As part of this funding offer, the Ataxia Charlevoix-Saguenay Foundation in collaboration with the \u201cRichardson Research Fund\u201d offers up to a maximum of $100,000 CAD per project and up to $25,000 CAD per project to support start-up initiatives (Seed Grant).<\/p>\n

Both types of grants are awarded for a 12-month period, with the possibility of renewal.\u00a0For more information and to apply<\/span>\u00a0:\u00a0\u00a0<\/span>ARSACS Call for Proposals<\/a>\u00a0and\u00a0<\/span>Application Form<\/a>.<\/span><\/p>\n<\/div><\/div>\n<\/div>\n<\/div>\n<\/div>\n\n

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ARSACS Research Projects<\/span>
2025-2026<\/span><\/h2>\n<\/div><\/div>\n<\/div>\n\n
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The Foundation would like to thank the Richardson Trust Fund<\/strong> for its generous contribution of $150K in order to jointly fund 3 research projects.<\/p>\n<\/div><\/div><\/div>\n<\/div>\n<\/div>\n\n

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\"Courir<\/span><\/a><\/div>

Courir pour soutenir les familles touch\u00e9es par l'ARSACS<\/a><\/h2>

8 avril 2026<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

Le 1er novembre 2024, Christos Scarpinato perdait sa m\u00e8re, atteinte de l'Ataxie Spastique Autosomique R\u00e9cessive de Charlevoix-Saguenay (ARSACS), une maladie neurologique rare et d\u00e9g\u00e9n\u00e9rative. Deux ans plus tard, il rel\u00e8ve un d\u00e9fi de taille : courir un marathon en sa m\u00e9moire et...<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Le fumarate de dim\u00e9thyle test\u00e9 dans un mod\u00e8le de souris ARSACS<\/a><\/h2>

31 mars 2026<\/span> | Rapports de projets de recherche<\/a><\/span><\/p>

Consult the research report by Drs. Justin Wolters and Huaxia Wang on their study of dimethyl fumarate in the ARSACS mouse model. This work was made possible through the financial support of the Ataxia Charlevoix-Saguenay Foundation. Read the report here.<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Infolettre<\/span><\/a><\/div>

Infolettre #6 \u00c9dition Hiver 2026<\/a><\/h2>

12 mars 2026<\/span> | Derni\u00e8res nouvelles<\/a>, Non class\u00e9<\/a><\/span><\/p>

Nous sommes heureux de partager les derni\u00e8res nouvelles de la Fondation de l'Ataxie Charlevoix-Saguenay. Dans cette \u00e9dition, nous mettons en lumi\u00e8re deux rapports scientifiques publi\u00e9s sur l'ARSACS. Nous annon\u00e7ons notre appel de propositions pour les subventions de recherche 2026, et nous partageons les d\u00e9tails de notre prochain...<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"8\u00e8me<\/span><\/a><\/div>

8\u00e8me \u00e9dition du Symposium ARSACS<\/a><\/h2>

5 mars 2026<\/span> | Derni\u00e8res nouvelles<\/a>, Conf\u00e9rences et \u00e9v\u00e9nements \u00e0 venir<\/a><\/span><\/p>

Nous avons le plaisir d'annoncer la 8e \u00e9dition du Symposium ARSACS, qui se tiendra le 9 novembre 2026, en tant que r\u00e9union satellite officielle du Congr\u00e8s international pour la recherche sur l'ataxie (ICAR) \u00e0 Atlanta. Cet \u00e9v\u00e9nement en personne r\u00e9unira des chercheurs de premier plan et...<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"D\u00e9velopper<\/span><\/a><\/div>

D\u00e9velopper de nouvelles approches pour traiter l'ARSACS<\/a><\/h2>

23 f\u00e9vrier 2026<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

Lisez l'article de Stefan Strack sur ARSACS, en particulier sur son travail qui a permis de d\u00e9livrer la longueur compl\u00e8te de la prot\u00e9ine humaine Sacsin dans le cadre de la th\u00e9rapie g\u00e9nique. Lire l'article (en anglais)<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Appel<\/span><\/a><\/div>

Appel \u00e0 propositions pour les bourses de recherche 2026<\/a><\/h2>

19 f\u00e9vrier 2026<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

Pour plus d'informations : Appel \u00e0 propositions Pour postuler : Formulaire de candidature<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Developing conditional mouse models and new approaches to treating ARSACS \u2013 by Dr. Stefan Strack, University of Iowa Carver College of Medicine<\/a><\/h2>

F\u00e9v 1, 2026<\/span> | Rapports de projets de recherche<\/a><\/span><\/p>

Developing conditional mouse models and new approaches to treating ARSACS \u2013 by Dr. Stefan Strack, University of Iowa Carver College of Medicine . This project was funded by the ARSACS Foundation in 2024\u20132025<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"D\u00e9couvrez<\/span><\/a><\/div>

D\u00e9couvrez le plus r\u00e9cent article des Dres Watt et McKinney<\/a><\/h2>

13 janvier 2026<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

“Alterations in the Na+\/H+ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS”- article publi\u00e9 dans le Cerebellum Journal en 2025. Consultez le rapport complet ici<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"D\u00e9couvrez<\/span><\/a><\/div>

D\u00e9couvrez le dernier article des docteurs Watt et McKinney<\/a><\/h2>

13 janvier 2026<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

\u201cL'article \u201dAlterations in the Na+\/H+ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS\" a \u00e9t\u00e9 publi\u00e9 r\u00e9cemment dans le journal Cerebellum. Lire le rapport complet ici<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Towards glial-targeted therapies of ARSACS \u2013 by Drs Herrera\/Fernandes\/Adams, University of Lisbon \/ Bilkent University<\/a><\/h2>

8 janvier 2026<\/span> | Rapports de projets de recherche<\/a><\/span><\/p>

Towards glial-targeted therapies of ARSACS \u2013 by Drs Herrera\/Fernandes\/Adams, University of Lisbon \/ Bilkent University . This project was funded by the ARSACS Foundation in 2022-2023<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Syst\u00e8me de cellules de l'\u00e9pith\u00e9lium pigmentaire r\u00e9tinien (EPR) pour d\u00e9couvrir les m\u00e9canismes mol\u00e9culaires des d\u00e9fauts r\u00e9tiniens li\u00e9s \u00e0 ARSACS - par le Dr. Daniele Galatolo, IRCCS Fondazione Stella Maris, Pise, Italie<\/a><\/h2>

8 janvier 2026<\/span> | Rapports de projets de recherche<\/a><\/span><\/p>

Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS-related retinal defects \u2013 by Dr. Daniele Galatolo, IRCCS Fondazione Stella Maris, Pisa, Italy . This project was funded by the ARSACS Foundation in 2022-2023<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Understanding the role of Metals in ARSACS \u2013 by Dr. Graham George, University of Saskatchewan<\/a><\/h2>

8 janvier 2026<\/span> | Rapports de projets de recherche<\/a><\/span><\/p>

Understanding the role of Metals in ARSACS \u2013 by Dr. Graham George, University of Saskatchewan funded jointly by the Foundation and the Richardson Research Fund in 2020-2021<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"1.4<\/span><\/a><\/div>

1.4 millions raised for research<\/a><\/h2>

8 janvier 2026<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

On November 27,2025 the 18th edition of the D\u00eener des Producteurs took place. The evening was a true success, with nearly $1.4 million raised in support of research. A special thank-you to our guest chef and winemaker: Chef Julien Royer of Odette in Singapore, as well…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"1,4<\/span><\/a><\/div>

1,4 M$ amass\u00e9s pour la recherche<\/a><\/h2>

8 janvier 2026<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Le 27 novembre dernier a eu lieu la 18e \u00e9dition du D\u00eener des Producteurs. La soir\u00e9e a connu un v\u00e9ritable succ\u00e8s et pr\u00e8s de 1,4 million de dollars ont \u00e9t\u00e9 amass\u00e9s au profit de la recherche. Un merci tout particulier \u00e0 notre chef et vigneron invit\u00e9s : le chef Julien…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"World<\/span><\/a><\/div>

World Orphan Drug Congress\u00a02025<\/a><\/h2>

Jan 5, 2026<\/span> | Conf\u00e9rences<\/a>, Derni\u00e8res Nouvelles<\/a><\/span><\/p>

En novembre dernier, l\u2019Ataxie Charlevoix-Saguenay a brillamment \u00e9t\u00e9 repr\u00e9sent\u00e9e au\u00a0World Orphan Drug Congress\u00a0\u00e0 Amsterdam. En tant que conf\u00e9renciers, les Drs Francesca Maltecca, Daniele De Ritis, Bart van de Warrenburg et Sonia Gobeil ont partag\u00e9 leur expertise et…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"World<\/span><\/a><\/div>

World Orphan Drug Congress 2025<\/a><\/h2>

Jan 5, 2026<\/span> | Conferences<\/a>, Derni\u00e8res nouvelles<\/a><\/span><\/p>

Last November, Charlevoix\u2013Saguenay Ataxia Foundation was brilliantly represented at the World Orphan Drug Congress in Amsterdam. As speakers, Drs. Francesca Maltecca, Daniele De Ritis, Bart van de Warrentburg, and Sonia Gobeil shared their expertise and unwavering…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Alterations in the Na+\/H+Exchanger NHE6 and Glutamate Transportersmay Influence Purkinje Cell Fate in ARSACS<\/a><\/h2>

Jan 1, 2026<\/span> | Publications<\/a><\/span><\/p>

Alterations in the Na+\/H+Exchanger NHE6 and Glutamate Transportersmay Influence Purkinje Cell Fate in ARSACS \u2013 Louis-Charles Masson, Atchaya S. Kanagasabai, Brenda Toscano M\u00e1rquez, Julia Tourbina-Kolomiets, Francois Charron, Alanna J. Watt, R. Anne McKinney. Research…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"A<\/span><\/a><\/div>

A city united behind the ARSACS cause<\/a><\/h2>

Jan 1, 2026<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

We would like to acknowledge the tremendous participation of the Anse Saint – Jean residents at the benefit bingo organized to support the research for children with ARSACS. As a result of their generosity, $13000 was raised. Thank you to everyone who attended, the…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Une<\/span><\/a><\/div>

Une ville unie pour la cause ARSACS<\/a><\/h2>

Jan 1, 2026<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Nous souhaitons souligner la formidable mobilisation des gens de l’Anse Saint- Jean lors du bingo b\u00e9n\u00e9fice organis\u00e9 au profit de la recherche afin d’aider les enfants atteints de l’ARSACS. Gr\u00e2ce \u00e0 leur g\u00e9n\u00e9rosit\u00e9, un montant de 1 300$ a \u00e9t\u00e9 amass\u00e9. Merci \u00e0 toutes les…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"La<\/span><\/a><\/div>

La th\u00e9rapie g\u00e9nique pour l\u2019ARSACS : des \u00e9tudes en cours<\/a><\/h2>

D\u00e9c 10, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Les avanc\u00e9es des \u00e9tudes pr\u00e9cliniques sont prometteuses pour le d\u00e9veloppement d\u2019une th\u00e9rapie g\u00e9nique pour l\u2019ARSACS, et des tests d\u2019efficacit\u00e9 chez des souris symptomatiques sont en cours. Pour en savoir plus sur ce projet de recherche en cours, cliquez ici.<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Gene<\/span><\/a><\/div>

Gene therapy for ARSACS: preclinical studies underway<\/a><\/h2>

D\u00e9c 10, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

The advances in preclinical studies are promising for the development of a gene therapy for ARSACS and efficacy in symptomatic mice are in progress. To know more about this ongoing research project, click here<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Virtual<\/span><\/a><\/div>

Virtual Auction is Back!<\/a><\/h2>

Nov 17, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

As part of the Diner des Producteurs 2025, an ideal opportunity to find exceptional lots while supporting ARSACS research. New this year: you can make a donation to fund directly a clinical trial for the Charlevoix Saguenay Ataxia. Every gesture counts – Don’t miss…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"L\u2019encan<\/span><\/a><\/div>

L\u2019encan virtuel est de retour !<\/a><\/h2>

Nov 17, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Une occasion id\u00e9ale dans le cadre du Diner des Producteurs 2025 de d\u00e9nicher des lots exceptionnels tout en soutenant la recherche. \u00a0Nouveaut\u00e9 cette ann\u00e9e\u00a0: vous pouvez faire un don directement pour financer un essai clinique pour l’ataxie Charlevoix- Saguenay. Chaque…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Le<\/span><\/a><\/div>

Le “Charity Ball” – Un grand succ\u00e8s!<\/a><\/h2>

Nov 13, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Le premier “Charity Ball” organis\u00e9 par Maxine Monks au Royaume-Uni le 11 octobre au profit de la recherche sur l’ARSACS a eu un vif succ\u00e8s. Toutes nos f\u00e9licitations \u00e0 Maxine et \u00e0 son \u00e9quipe d’avoir organis\u00e9 cet \u00e9v\u00e9nement . Un gros merci \u00e0 tous les b\u00e9n\u00e9voles,…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"The<\/span><\/a><\/div>

The “Charity Ball” – a great success!<\/a><\/h2>

Nov 13, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

The first “Charity Ball” organized by Maxine Monks in the UK on October 11 to support ARSACS research had a great success. Congratulations to Maxine and her team for organizing the event. Thank you to all the volunteers, sponsors and donors for their generosity who…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"A<\/span><\/a><\/div>

A school project to support ARSACS research<\/a><\/h2>

Nov 12, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

Thank you to William Harvey and his entire team for their initiative as part of a year-end project at Arvida High School last May. This fundraiser consisted of selling hot dogs and treats. Their donation of $345 is greatly appreciated and will contribute to ARSACS…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Un<\/span><\/a><\/div>

Un projet de fin d’ann\u00e9e scolaire pour la recherche<\/a><\/h2>

Nov 12, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Merci \u00e0 William Harvey et toute son \u00e9quipe pour leur initiative dans le cadre d\u2019un projet de fin d\u2019ann\u00e9e \u00e0 la Polyvalente d’Arvida en mai dernier. Cette collecte de fonds consistait en la vente de hot-dogs et de friandises. \u00a0Leur don de 345 $ est grandement appr\u00e9ci\u00e9…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"A<\/span><\/a><\/div>

A case of ARSACS detected in Uruguay<\/a><\/h2>

Nov 4, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

ARSACS is around the world. The first clinical case, involving a 3-year-old girl, led to research funded by the Ataxia Charlevoix-Saguenay Foundation. A Radio Canada interview with neurologists from Quebec on the subject. (Interview available in French only).<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Un<\/span><\/a><\/div>

Un cas d’ARSACS d\u00e9tect\u00e9 en Uruguay<\/a><\/h2>

Nov 4, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

L’ARSACS est \u00e0 travers le monde. Le premier cas clinique d\u2019une fillette de 3 ans est \u00e0 l\u2019origine de travaux de recherche financ\u00e9s par la Fondation de l’Ataxie Charlevoix Saguenay. Entrevue de Radio Canada avec des neurologues du Qu\u00e9bec sur le sujet.<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Invitation<\/span><\/a><\/div>

Invitation \u00e0 devenir un partenaire de Rare.QC<\/a><\/h2>

Oct 21, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Vous vivez avec une maladie rare, ou vous accompagnez une personne atteinte d\u2019une maladie rare? Vous voulez faire entendre votre voix et aider \u00e0 faire avancer la recherche? Devenez membre partenaire du r\u00e9seau de recherche de RARE.QC. En savoir plus.<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Invitation<\/span><\/a><\/div>

Invitation to become a partner of RARE.QC<\/a><\/h2>

Oct 21, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

Do you live with a rare disease, or are you supporting someone who does? Do you want tomake your voice heard and help advance research? Become a partner member of Rare Qc research network. Invitation<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Two<\/span><\/a><\/div>

Two interesting articles related to ARSACS from China<\/a><\/h2>

Oct 17, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

The first article “Genetic Analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix- Saguenay” published in BMC Medical Genomics in 2025. Read here. The second article is a case report “Scalp acupuncture…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"2<\/span><\/a><\/div>

2 articles int\u00e9ressants concernant l’ARSACS publi\u00e9s en Chine.<\/a><\/h2>

Oct 17, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Le premier article  \u201cGenetic Analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix- Saguenay\u201d publi\u00e9 dans BMC Medical Genomics en 2025. Voir article. Le deuxi\u00e8me article est un cas report\u00e9…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Funded<\/span><\/a><\/div>

Funded ARSACS projects in 2025-2026<\/a><\/h2>

Oct 7, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

The Ataxia Charlevoix Saguenay Foundation is pleased to announce the funding of 13 innovative ARSACS projects in 2025-2026 for an investment of $1.150M. A number of these projects have been made possible through a co-funding partnership with the Richardson Trust Fund….<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Annonce<\/span><\/a><\/div>

Annonce des projets ARSACS en 2025-2026<\/a><\/h2>

Oct 7, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

La Fondation Ataxie Charlevoix Saguenay est heureuse d’annoncer le financement de 13 projets ARSACS en 2025-2026 totalisant un investissement de 1.150 M$. Plusieurs de ces projets ont \u00e9t\u00e9 rendus possibles gr\u00e2ce \u00e0 un partenariat de cofinancement avec le Richardson…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"\u201cComment<\/span><\/a><\/div>

\u201cComment les t\u00e9moignages des patients alimentent la recherche sur les ataxies \u201d\u00a0<\/a><\/h2>

Oct 7, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

(article en version anglaise seulement) Un article tr\u00e8s int\u00e9ressant publi\u00e9 en septembre par le Oxford-Harrington Rare disease Centre avec Dre Esther Becker qui fait partie de l’\u00e9quie de recherche ARSACS et Sonia Gobeil, co-fondatrice de la Fondation de l’Ataxie…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"“How<\/span><\/a><\/div>

“How Patient Stories Fuel Ataxia Research”\u00a0<\/a><\/h2>

Oct 7, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

A very interesting article published in September by the Oxford-Harrington Rare Disease Centre featuring Dr. Esther Becker who is conducting ARSACS research and Sonia Gobeil co-founder of the Ataxia Charlevoix- Saguenay. “How Patient Stories Fuel Ataxia Research”<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Genetic Analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix- Saguenay<\/a><\/h2>

Oct 1, 2025<\/span> | Publications<\/a><\/span><\/p>

Genetic Analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix- Saguenay \u2013 . An article published in BMC Medical Genomics in 2025..<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Scalp acupuncture combined with physiotherapy for ARSACS<\/a><\/h2>

Oct 1, 2025<\/span> | Publications<\/a><\/span><\/p>

Scalp acupuncture combined with physiotherapy for ARSACS \u2013 . A case report published in China in the Helyion Journal in 2024..<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Infolettre<\/span><\/a><\/div>

Infolettre #5 \u2013 \u00c9dition Automne 2025<\/a><\/h2>

Sep 29, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Nous sommes heureux de partager avec vous les plus r\u00e9centes nouvelles de la Fondation de l\u2019Ataxie Charlevoix-Saguenay. Dans cette \u00e9dition, vous trouverez un article scientifique r\u00e9cemment publi\u00e9 sur l\u2019ARSACS, des d\u00e9tails sur les projets de recherche financ\u00e9s par la…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Newsletter<\/span><\/a><\/div>

Newsletter #5 \u2013 Autumn 2025 Edition<\/a><\/h2>

Sep 29, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

We are excited to share the latest updates from the Ataxia of Charlevoix-Saguenay Foundation. In this edition, you will find a newly published scientific article on ARSACS, details about the research projects funded by the Foundation for 2025\u20132026, and an invitation…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Exploring the contributions of DCN alterations to cerebellar dysfunction inARSACS” – Dre Alanna Watt<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

In ARSACS, the cerebellum, critical for coordination and balance, is one of the most affected brain regions. Within the cerebellum, communication between Purkinje cells and the cerebellar nuclei, which helps integrate signals and execute coordinated movements, begins…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Characterization of Clinically Relevant Compounds Modulating the ARSACS associated Phenoty\u0440\u0435” – Dr Mohan Babu<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited disease that damages the nervous system and muscles, caused by faults in a protein called sacsin. There is currently no cure, and existing treatments only ease some symptoms. To…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Scalable therapeutic testing in the ARSACS mouse” – Drs Justin Wolter & Huaxia Wang<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

Our project aims to accelerate drug discovery for ARSACS by using advanced single nucleus RNA sequencing (snRNAseq) to test 8 therapeutic candidates in the ARSACS mouse model (including ongoing studies led by Drs. Gentil\/Durham, and Drs. Lim\/Schmahmann). Unlike…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Redefining ARSACS: Exploring TDP-43 Proteinopathy as a Novel Pathogenic Mechanism” – Dr Fran\u00e7ois Gros-Louis<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

Notre projet de recherche vise \u00e0 mieux comprendre l\u2019ARSACS. Gr\u00e2ce \u00e0 une analyse approfondie du cerveau d\u2019un patient d\u00e9c\u00e9d\u00e9 ayant g\u00e9n\u00e9reusement consenti au don d\u2019organes \u00e0 des fins de recherche, nous avons identifi\u00e9 des anomalies similaires \u00e0 celles observ\u00e9es dans…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Developing conditional mouse models and new approaches to treating ARSACS\u201d – Dr Stefan Strack<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

The Sacs knock-out (KO) mouse is a faithful model of ARSACS, displaying ataxia, muscle weakness, cerebellar degeneration, and, as we have recently shown, learning and memory deficits. With this proposal, we seek to pharmacologically rescue motor- and cognitive…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\u201cTherapeutic Approaches for ARSACS\u201d- Dr Benoit Gentil et Dre Heather Durham<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

This research focuses on developing a potential gene therapy for ARSACS, a rare inherited neurological disease. Scientists created a smaller version of the faulty protein (called\u00a0minisacsin) that can fit into a viral vector for delivery to nerve cells. In mouse…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Unveiling the Role of Microglia in ARSACS: A Multi-Model Approach IntegratingHuman Microglial and Zebrafish Models”- Dr Devid Damiani<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

As many other neurodegenerative diseases, ARSACS is also a matter of inflammation. Recent researches clarified that high levels of Sacsin protein are present in astrocytes and microglia, the cell populations of the brain that act like principal mediators of…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\u201cStructural Determination of Sacsin\u201d- Dr Walid Houry<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was described in 1978 as a unique form of ataxia accompanied with motor speech anomalies, muscle wasting phenotypes, and peripheral nerve complications. Genetic studies have established that ARSACS is…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\u201cTargeting Cav2.1 to recover firing defects anddegeneration of Purkinje neurons in ARSACS\u201d – Dre Francesca Maltecca<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

A central theme in cerebellar ataxia is mutations in genes encoding calcium regulatory genes, highlighting the selective vulnerability of Purkinje neurons to alteration of calcium fluxes. We have recently demonstrated that the Voltage-Gated Calcium Channel (VGCC)…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Targeting Scn4b as a therapy to rescue ataxia in a mouse model of ARSACS” – Dre R. Anne McKinney<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

As cerebellar dysfunction is thought to underlie ARSACS pathology, work from the\u00a0McKinney lab focus on identifying novel disease-causing mechanisms in a mouse model of ARSACS, as well as implementing new therapeutic approaches to ameliorate cerebellar function and…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Advanced MRI studies to achieve microstructural insight and identifyimaging biomarkers in ARSACS ” – Dre Roberta La Piana<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

The involvement of the corticospinal tracts (CST) and cerebellum are the disease hallmarks of ARSACS. Previous radiological studies documented the presence of specific findings which were described as\u00a0linear hypointensities in T2-weighted images at the level of the…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Exploring the Role of Sacsin on Blood-Brain Barrier Cell Structure, Behavior and Function” – Dr Federico Herrera<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

Loss of sacsin affect neurons in the cerebellum, but the role of other, non-neuronal brain cells in ARSACS has been less studied. The team discovered high amounts of sacsin in the cells that form the blood-brain barrier\u2014a protective layer that keeps harmful substances…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

” A transcriptomic approach to drug discovery against ARSACS ” – Dr Nicolas Dupr\u00e9<\/a><\/h2>

Sep 25, 2025<\/span> | Projets de recherche<\/a><\/span><\/p>

Ce projet de recherche vise \u00e0 d\u00e9couvrir de nouvelles cibles th\u00e9rapeutiques et des m\u00e9dicaments potentiels pour l’ARSACS en combinant des \u00e9chantillons sanguins de\u00a0 patients avec la technologie des iPSC (cellules souches pluripotentes induites) et l’intelligence…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Targeting Scn4b as a therapy to rescue ataxia in a mouse model of ARSACS\u201d – Dr. R. Anne McKinney<\/a><\/h2>

Sep 25, 2025<\/span> | Current Research<\/a><\/span><\/p>

As cerebellar dysfunction is thought to underlie ARSACS pathology, work from the McKinney lab focus on identifying novel disease-causing mechanisms in a mouse model of ARSACS, as well as implementing new therapeutic approaches to ameliorate cerebellar function and…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Redefining ARSACS: Exploring TDP-43 Proteinopathy as a Novel Pathogenic Mechanism ” – Dr. Fran\u00e7ois Gros-Louis<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

Our research project aims to improve our understanding of ARSACS. Through an in-depth analysis of the brain of a deceased patient who generously consented to organ donation for research purposes, we identified abnormalities like those observed in…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Scalable therapeutic testing in the ARSACS mouse” – Drs. Justin Wolter & Huaxia Wang<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

Our project aims to accelerate drug discovery for ARSACS by using advanced single nucleus RNA sequencing (snRNAseq) to test 8 therapeutic candidates in the ARSACS mouse model (including ongoing studies led by Drs. Gentil\/Durham, and Drs. Lim\/Schmahmann). Unlike…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Therapeutic Approaches for ARSACS”- Dr. Benoit Gentil and Dr. Heather Durham<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

This research focuses on developing a potential gene therapy for ARSACS, a rare inherited neurological disease. Scientists created a smaller version of the faulty protein (called\u00a0minisacsin) that can fit into a viral vector for delivery to nerve cells. In mouse…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\u201cStructural Determination of Sacsin\u201d – Dr. Walid Houry<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was described in 1978 as a unique form of ataxia accompanied with motor speech anomalies, muscle wasting phenotypes, and peripheral nerve complications. Genetic studies have established that ARSACS is…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Developing conditional mouse models and new approaches to treating ARSACS” – Dr. Stefan Strack<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

The Sacs knock-out (KO) mouse is a faithful model of ARSACS, displaying ataxia, muscle weakness, cerebellar degeneration, and, as we have recently shown, learning and memory deficits. With this proposal, we seek to pharmacologically rescue motor- and cognitive…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\u201c Targeting Cav2.1 to recover firing defects and degeneration of Purkinje neurons in ARSACS \u201d – Dr. Francesca Maltecca<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

A central theme in cerebellar ataxia is mutations in genes encoding calcium regulatory genes, highlighting the selective vulnerability of Purkinje neurons to alteration of calcium fluxes. We have recently demonstrated that the Voltage-Gated Calcium Channel (VGCC)…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Characterization of Clinically Relevant Compounds Modulating the ARSACS associated Phenoty\u0440\u0435” – Dr. Mohan Babu<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited disease that damages the nervous system and muscles, caused by faults in a protein called sacsin. There is currently no cure, and existing treatments only ease some symptoms. To…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Exploring the contributions of DCN alterations to cerebellar dysfunction in ARSACS” – Dr. Alanna Watt<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

In ARSACS, the cerebellum, critical for coordination and balance, is one of the most affected brain regions. Within the cerebellum, communication between Purkinje cells and the cerebellar nuclei, which helps integrate signals and execute coordinated movements, begins…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Unveiling the Role of Microglia in ARSACS: A Multi-Model Approach Integrating Human Microglial and Zebrafish Models” – Dr. Devid Damiani<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

As many other neurodegenerative diseases, ARSACS is also a matter of inflammation. Recent researches clarified that high levels of Sacsin protein are present in astrocytes and microglia, the cell populations of the brain that act like principal mediators of…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Advanced MRI studies to achieve microstructural insight and identify imaging biomarkers in ARSACS ” – Dr. Roberta LaPiana<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

The involvement of the corticospinal tracts (CST) and cerebellum are the disease hallmarks of ARSACS. Previous radiological studies documented the presence of specific findings which were described as linear hypointensities in T2-weighted images at the level of…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“Exploring the Role of Sacsin on Blood-Brain Barrier Cell Structure, Behavior and Function” – Dr. Federico Herrera<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

Loss of sacsin affect neurons in the cerebellum, but the role of other, non-neuronal brain cells in ARSACS has been less studied. The team discovered high amounts of sacsin in the cells that form the blood-brain barrier\u2014a protective layer that keeps harmful substances…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

“A transcriptomic approach to drug discovery against ARSACS ” – Dr. Nicolas Dupr\u00e9<\/a><\/h2>

Sep 24, 2025<\/span> | Current Research<\/a><\/span><\/p>

This project aims to discover new therapeutic targets and potential drugs for ARSACS by combining blood samples from patients with advanced iPSC (induced pluripotent stem cell) technology and artificial intelligence (AI). The team will analyze gene expression patterns…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS \u2013 by Dr. Javier Santos, Buenos Aires University, Argentina<\/a><\/h2>

Sep 8, 2025<\/span> | Rapports de projets de recherche<\/a><\/span><\/p>

Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS \u2013 by Dr. Javier Santos, Buenos Aires University, Argentina . This project was funded by the ARSACS Foundation in 2024\u20132025<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Rapport<\/span><\/a><\/div>

Rapport de projet du Dr Javier Santos<\/a><\/h2>

Sep 4, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Nous vous pr\u00e9sentons le rapport du projet de recherche du Dr Javier Santos, intitul\u00e9 \u00ab Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS \u00bb. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation pour…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Dr.<\/span><\/a><\/div>

Dr. Javier Santos\u2019 Project Report<\/a><\/h2>

Sep 3, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

We are pleased to present Dr. Javier Santos\u2019 research project report, entitled \u201cBiophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS.\u201d . This project was funded by the ARSACS Foundation for…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Sondage<\/span><\/a><\/div>

Sondage international sur la th\u00e9rapie g\u00e9nique pour les ataxies g\u00e9n\u00e9tiques<\/a><\/h2>

Ao\u00fbt 26, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Les personnes vivant avec l’ARSACS (ou parent\/tuteur) sont invit\u00e9es \u00e0 r\u00e9pondre \u00e0 un sondage en ligne visant \u00e0 recueillir leurs opinions sur la th\u00e9rapie g\u00e9nique. \ud83d\udd39 Objectif : orienter la conception des futurs projets de recherche et essais cliniques\u23f3 Dur\u00e9e : ~30…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"International<\/span><\/a><\/div>

International survey on gene therapy for genetic ataxias<\/a><\/h2>

Ao\u00fbt 26, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

People living with a ARSACS (or parent\/guardian) are invited to take part in an online survey about gene therapy. \ud83d\udd39 Purpose: to gather opinions that will help shape future research projects and clinical trial design\u23f3 Duration: ~30 minutes \u2013 anonymous\ud83d\uddd3\ufe0f Deadline: End…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Webinaire en direct<\/a><\/h2>

Ao\u00fbt 19, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Pour plus de d\u00e9tails, cliquez ici<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"LIVE<\/span><\/a><\/div>

LIVE Webinar<\/a><\/h2>

Ao\u00fbt 19, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

For more details click here  <\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Rapport<\/span><\/a><\/div>

Rapport du projet de recherche de la Dre Martina Crispo<\/a><\/h2>

Ao\u00fbt 6, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Nous vous pr\u00e9sentons le rapport du projet de recherche de Dre Martina Crispo (Institut Pasteur de Montevideo, Uruguay), intitul\u00e9 \u00ab Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay \u00bb. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation pour l\u2019ann\u00e9e…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Dr.<\/span><\/a><\/div>

Dr. Martina Crispo’s Research Report<\/a><\/h2>

Ao\u00fbt 6, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

We are pleased to present Dr. Marina Crispo\u2019s research project report (Institute Pasteur de Montevideo, Uruguay), entitled “Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay”. . This project was funded by the ARSACS Foundation for the 2024\u20132025…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report<\/a><\/h2>

Ao\u00fbt 1, 2025<\/span> | Publications<\/a><\/span><\/p>

Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report \u2013 . Research conducted in Uruguay and published in the Journal of Medical Case Reports in August 2025..<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Publication<\/span><\/a><\/div>

Publication r\u00e9cente sur l\u2019ARSACS<\/a><\/h2>

Juil 31, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Nous vous partageons l’article scientifique intitul\u00e9 \u00ab Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay \u00bb, issu des travaux du Dr Federico Herrera et collaborateurs, publi\u00e9…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Recent<\/span><\/a><\/div>

Recent Publication on ARSACS<\/a><\/h2>

Juil 31, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

We are pleased to share the scientific article entitled ” Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay”, based on the work of Dr. Federico Herrera and colleagues,…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Recherche<\/span><\/a><\/div>

Recherche sur l\u2019ARSACS et l\u2019ARN<\/a><\/h2>

Juil 22, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Dr Benoit Gentil (McGill) a r\u00e9cemment obtenu un financement important pour un projet qui vise \u00e0 d\u00e9velopper une approche th\u00e9rapeutique pour l\u2019ARSACS bas\u00e9e sur l\u2019ARN en utilisant une technologie de nanoparticules. Ce projet est men\u00e9 en collaboration avec QurCan…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"ARSACS<\/span><\/a><\/div>

ARSACS and RNA Research<\/a><\/h2>

Juil 22, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

Dr. Benoit Gentil (McGill) was recently awarded significant funding for a project aiming to develop an RNA-based therapeutic approach for ARSACS using nanoparticle technology. This project is being carried out in collaboration with QurCan Therapeutics and Genome…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Infolettre<\/span><\/a><\/div>

Infolettre #4 \u2013 \u00c9dition \u00c9t\u00e9 2025<\/a><\/h2>

Juil 10, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Dans cette \u00e9dition, d\u00e9couvrez les derni\u00e8res nouvelles de la Fondation, dont un article scientifique r\u00e9cemment publi\u00e9 sur l\u2019ARSACS, un aper\u00e7u du prochain Diner des Producteurs 2025, ainsi que des informations sur notre participation \u00e0 venir au WODC Europe \u00e0 Amsterdam….<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Newsletter<\/span><\/a><\/div>

Newsletter #4 \u2013 Summer 2025 Edition<\/a><\/h2>

Juil 10, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

In this issue, discover the latest updates from the Foundation, including a newly published scientific article on ARSACS, a preview of the upcoming 2025 Diner des Producteurs, and details about our upcoming participation in the WODC Europe in Amsterdam. Read it now<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay \u2013 by Dr. Martina Crispo, Institut Pasteur de Montevideo, Uruguay<\/a><\/h2>

Juil 8, 2025<\/span> | Rapports de projets de recherche<\/a><\/span><\/p>

Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay \u2013 by Dr. Martina Crispo, Institut Pasteur de Montevideo, Uruguay . This project was funded by the ARSACS Foundation in 2024\u20132025<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Nouveau<\/span><\/a><\/div>

Nouveau groupe de soutien ARSACS<\/a><\/h2>

Juil 7, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Natalie et Rachael Seals, elles-m\u00eames touch\u00e9es par l\u2019ARSACS, lancent un groupe de soutien en ligne. Prochaines rencontres sur Zoom : Samedi 2 ao\u00fbt \u00e0 10h Samedi 4 octobre \u00e0 10h Inscription obligatoire pour participer. Pour vous inscrire ou en savoir plus :…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"New<\/span><\/a><\/div>

New ARSACS Support Group<\/a><\/h2>

Juil 7, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

Natalie and Rachael Seals, who are personally affected by ARSACS, are starting an online support group. Upcoming Zoom meetings: Saturday 2 August at 10am Saturday 4 October at 10am Registration required to join. For details or to sign up: volunteering@ataxia.org.uk<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"PARTICIPEZ<\/span><\/a><\/div>

PARTICIPEZ \u00c0 UNE \u00c9TUDE EN LIGNE<\/a><\/h2>

Juil 2, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Le Schmahmann Laboratory (Massachusetts General Hospital Ataxia Center, Boston) recrute des adultes atteints de maladies c\u00e9r\u00e9belleuses pour valider un nouvel outil d\u2019\u00e9valuation des aspects \u00e9motionnels du syndrome cognitif et affectif c\u00e9r\u00e9belleux (CCAS). Qui peut…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"JOIN<\/span><\/a><\/div>

JOIN AN ONLINE STUDY<\/a><\/h2>

Juil 2, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

The Schmahmann Laboratory (Massachusetts General Hospital Ataxia Center, Boston) is conducting a study to validate a new tool for assessing emotional aspects related to the Cerebellar Cognitive and Affective Syndrome (CCAS). Who can participate?\ud83d\udc49 English-speaking…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Long-term benefits of TUDCA supplement in ARSACS zebrafish model<\/a><\/h2>

Juil 1, 2025<\/span> | Publications<\/a><\/span><\/p>

Long-term benefits of TUDCA supplement in ARSACS zebrafish model \u2013 Dr. Valentina Naef. Research by Dr. Valentina Naef and her team, published in Scientific Reports in July 2025..<\/p>\n<\/div>read more…<\/a><\/div><\/article>

Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay<\/a><\/h2>

Juil 1, 2025<\/span> | Publications<\/a><\/span><\/p>

Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay \u2013 Dr. Federico Herrera. Based on the work of Dr. Federico Herrera and colleagues, published in July 2025 in Archives of…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

La Fondation ARSACS pr\u00e9sentera au WODC Europe 2025<\/a><\/h2>

Juin 18, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Nous sommes fiers d\u2019annoncer notre participation au World Orphan Drug Congress (WODC) Europe, qui se tiendra en octobre prochain \u00e0 Amsterdam. Un kiosque sera sur place nous permettant d’\u00e9changer avec les participants et faire conna\u00eetre notre mission aupr\u00e8s des acteurs…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"La<\/span><\/a><\/div>

La Fondation ARSACS pr\u00e9sente un expos\u00e9 \u00e0 WODC Europe 2025<\/a><\/h2>

Juin 18, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

We are proud to announce our participation to the World Orphan Drug Congress (WODC) Europe, which will be held this October in Amsterdam. A booth will be displayed to engage with attendees and raise awareness about our mission among international stakeholders in the…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Revue<\/span><\/a><\/div>

Revue sur les ataxies r\u00e9cessives<\/a><\/h2>

Juin 5, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Nous sommes heureux de partager un article publi\u00e9 dans le journal Annals of Neurology, portant sur les ataxies c\u00e9r\u00e9belleuses autosomiques r\u00e9cessives, incluant l\u2019ARSACS. Lire l\u2019article ici<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Review<\/span><\/a><\/div>

Review on Recessive Ataxias<\/a><\/h2>

Juin 5, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

We are pleased to share a review published in the journal Annals of Neurology on autosomal recessive cerebellar ataxias, including ARSACS. Read article here<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Th\u00e8se<\/span><\/a><\/div>

Th\u00e8se et publication issues d\u2019un projet financ\u00e9<\/a><\/h2>

Juin 3, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

Un article issu d\u2019un projet financ\u00e9 par la Fondation en 2022\u20132023 vient d\u2019\u00eatre publi\u00e9. Cette recherche sur des mod\u00e8les cellulaires de l\u2019ARSACS a aussi permis \u00e0 Dre Fernanda Murtinheira de soutenir avec succ\u00e8s sa th\u00e8se de doctorat. Bravo aux Drs Herrera et Murtinheira…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"PhD<\/span><\/a><\/div>

PhD and Publication from a Funded Project<\/a><\/h2>

Juin 3, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

A research article from a project funded by the Foundation in 2022\u20132023 has just been published. This study on cellular models of ARSACS also led to Dr. Fernanda Murtinheira successfully defending her PhD. Congrats to Drs. Fernanda and Federico Herrera for this…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Nouvelle<\/span><\/a><\/div>

Nouvelle publication scientifique sur l\u2019ARSACS<\/a><\/h2>

Mai 28, 2025<\/span> | Derni\u00e8res Nouvelles<\/a><\/span><\/p>

D\u00e9couvrez cette r\u00e9cente publication scientifique sur l\u2019ARSACS.Les travaux de recherche ont \u00e9t\u00e9 financ\u00e9s par Associazione ARSACS ODV \u2013 Italy, une fondation mise sur pied par l\u2019un des membres de notre conseil d\u2019administration, Dr Paolo Arrigoni. Lire l\u2019article…<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"New<\/span><\/a><\/div>

New scientific publication on ARSACS<\/a><\/h2>

Mai 28, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

Read about this recent scientific publication on ARSACS.The research featured in this article was funded by Associazione ARSACS ODV \u2013 Italy, a foundation established by one of the members of our Board of Directors, Dr. Paolo Arrigoni. Read the article<\/p>\n<\/div>read more…<\/a><\/div><\/article>

\"Diner<\/span><\/a><\/div>

Diner des Producteurs 2025<\/a><\/h2>

Mai 12, 2025<\/span> | Derni\u00e8res nouvelles<\/a><\/span><\/p>

Reservation \/ Sponsorship \/ Donation Form<\/p>\n<\/div>read more…<\/a><\/div><\/article><\/div>

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Research Tools Available<\/h2>\n

Sacs Knock Out mouse (# 033221)<\/p>\n

Sacs Knock In R272C mouse (# 033385)<\/p>\n

Two iPS cell lines are available for research, 1 female and 1 male. These cells are derived from samples taken from people diagnosed with ARSACS (both are homozygous c.8844delT). They have been generated by the Sendai virus method.<\/p>\n

ARSACS Natural History<\/p>\n

A large longitudinal study aiming to describe the natural history of ARSACS, with an assessment every 2 years, was conducted from 2011 to 2022. Data relating to coordination, hand strength, walking capacities, balance, overall disease severity are available from a cohort of 90 individuals from Saguenay, Quebec City and Charlevoix.<\/p>\n<\/div><\/div>\n\n

Contact Us<\/a><\/div>\n<\/div>\n<\/div>\n<\/div>\n\n
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Publications on ARSACS<\/h2><\/div><\/div>\n<\/div>\n<\/div>\n\n
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\"Courir<\/span><\/a><\/div>

Courir pour soutenir les familles touch\u00e9es par l'ARSACS<\/a><\/h2>

Avr 2026<\/span><\/p>

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Le 1er novembre 2024, Christos Scarpinato a perdu sa m\u00e8re, atteinte de l'Ataxie Spastique Autosomique R\u00e9cessive de Charlevoix-Saguenay (ARSACS), une maladie neurologique rare et d\u00e9g\u00e9n\u00e9rative.<\/p>\r\n\r\n\r\n\r\n

Deux ans plus tard, il rel\u00e8ve un d\u00e9fi de taille : courir un marathon en sa m\u00e9moire et pour faire avancer la recherche.<\/p>\r\n\r\n\r\n\r\n

\u00c0 cette occasion, une campagne de collecte de fonds a \u00e9t\u00e9 lanc\u00e9e pour soutenir les efforts visant \u00e0 mieux comprendre et traiter cette maladie, pour laquelle il n'existe actuellement aucun rem\u00e8de.<\/p>\r\n\r\n\r\n\r\n

\ud83d\udc49 Chaque don et chaque action font vraiment la diff\u00e9rence. Lire ici<\/a>
\ud83d\udc99 Soutenez-le et participez \u00e0 cette initiative inspirante ! Faire un don<\/a><\/p>\r\n\r\n\r\n\r\n

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