Ataxia Charlevoix-Saguenay Foundation
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).
Since its creation, the Foundation has funded several research projects related to this neurological disorder. The Foundation is a charitable organization and is supported entirely by private donations and volunteers who support the cause.
Research Objectives
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:
Financing of several promising research projects with reearchers that are experts in this field.
Forming partnerships with other organizations and pharmaceutical companies to further the understanding of this disease and conduct independent research.
Conducting clinical trials
Scientific Advisory Board
All applications for research grants are evaluated by the Scientific Advisory Board of the Ataxia of Charlevoix-Saguenay Foundation according to specific criteria.
Research Grants
To further encourage and accelerate the development of a treatment for ARSACS, the Ataxia Charlevoix-Saguenay Foundation provides grants and opportunities to researchers.
This year, the call for proposals of the Ataxia of Charlevoix-Saguenay Foundation is jointly supported by the “Richardson Research Fund” to fund ARSACS research projects.
As part of this funding offer, the Ataxia Charlevoix-Saguenay Foundation in collaboration with the “Richardson Research Fund” 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).
Both types of grants are awarded for a 12-month period, with the possibility of renewal. For more information and to apply : ARSACS Call for Proposals and Application Form.
ARSACS Research Projects
2026-2027
The Foundation gratefully acknowledges the generous support of the Richardson Trust Fund and Action for ARSACS Foundation USA (AFA) in helping fund the 2026–2027 ARSACS research projects.
Un généreux don pour poursuivre la recherche sur l’ARSACS
La Fondation de l'Ataxie Charlevoix-Saguenay est honorée de recevoir un don de 340 000 $ du Richardson Research Trust. Nous exprimons notre sincère gratitude à M. Lawrence et Mme Lucille Richardson pour leur générosité, qui joue un rôle essentiel dans l'avancement de...
A Generous Contribution to Support ARSACS Research
The Charlevoix-Saguenay Ataxia Foundation is honored to receive a donation of $340,000 from the Richardson Research Trust. We extend our sincere gratitude to Mr. Lawrence and Mrs. Lucille Richardson for their generosity, which plays a vital role in driving our mission...
“Dimethyl Fumarate Tested on the ARSACS Mouse Model” – Drs. Justin Wolter & Huaxia Wang
This project, led by Drs. Justin Wolter and Huaxia Wang, aims to test the therapeutic potential of dimethyl fumarate (DMF) in the ARSACS mouse model. DMF is currently approved for the treatment of multiple sclerosis (MS), where it has been shown to reduce...
“Dimethyl Fumarate Tested on the ARSACS Mouse Model” – Drs. Justin Wolter & Huaxia Wang
This project, led by Drs. Justin Wolter and Huaxia Wang, aims to test the therapeutic potential of dimethyl fumarate (DMF) in the ARSACS mouse model. DMF is currently approved for the treatment of multiple sclerosis (MS), where it has been shown to reduce...
Targeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS – by Dr. F. Maltecca, Ospedale San Raffaele, Milan, Italy
Targeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS – by Dr. F. Maltecca, Ospedale San Raffaele, Milan, Italy . This project was funded by the ARSACS Foundation in 2022-2023
Mme Marie-Eve Duguay se joint à la Fondation
La Fondation de l'Ataxie Charlevoix-Saguenay a le plaisir d’annoncer l’arrivée de Mme Marie-Eve Duguay au poste de Directrice. Avec une riche expérience dans le domaine de la santé, Marie-Eve supervisera les opérations tout en développant des...
Ms. Marie-Eve Duguay is Joining the Foundation
The Ataxie Charlevoix-Saguenay Foundation is pleased to announce the arrival of Ms. Marie-Eve Duguay as Director. With her extensive experience in the healthcare field, Marie-Eve will oversee operations while developing strategic partnerships and optimizing internal...
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10 projets innovants pour un investissement de 850 000$
La Fondation de l’Ataxie Charlevoix-Saguenay est heureuse d'annoncer le financement de 10 projets de recherche innovants en 2024-2025. Il s’agit d’un investissement de 850 000 $ visant à comprendre les causes sous-jacentes de l’ARSACS et à développer des traitements...
10 innovative ARSACS projects for an investment of 850 000$
The Ataxia Charlevoix -Saguenay Foundation is pleased to announce the funding of 10 innovative research projects in 2024-2025. This is an investment of $850,000 aimed to understand the underlying causes of ARSACS and to develop effective treatments. Congratulations...
“Modelling ARSACS in human in iPSC-derived cerebellar organoids ”– Dr. Esther Becker
This project aims to create three-dimensional disease models called ‘organoids’ using induced pluripotent stem cells (iPSCs) from ARSACS patients. Human iPSCs are obtained from individuals’ skin cells by a process known as reprogramming and resemble stem cells present...
“Structural Determination of Sacsin”- Dr Walid Houry
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a non-treatable neurodegenerative genetic disorder of early childhood and adulthood. When first reported in 1978, ARSACS was described as a unique form of ataxia, accompanied with motor speech...
“Therapeutic Approaches for ARSACS”- Drs Benoit Gentil et Heather Durham
ARSACS is characterised by the lack of sacsin expression, and the formation of intermediate filaments bundles in neurons and fibroblasts derived from skin biopsies. Our strategy over the last years has been aimed at developing a replacement therapy, by peptide and/or...
“Targeting Cav2.1 to recover firing defects anddegeneration of Purkinje neurons in ARSACS” – Dre Francesca Maltecca
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)...
“Developing conditional mouse models and new approaches to treating ARSACS” – Dr Stefan Strack
Mouse models are invaluable for studying disease mechanisms and ultimately treatment. 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...
“Discovering whole blood DNA methylation biomarkers of ARSACS progression”- Drs Daniele Galatolo et Giulia De Rosi
The overall aim of this project is to identify the potential role of DNA methylation changes as biomarker of ARSACS progression. We previously demonstrated that patients affected by ARSACS showed changes in DNA methylation pattern, indicating that epigenetics might...
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” – Dre Alanna Watt et Dre Anne McKinney
A compléter Financement : 213 000$ Durée : 2ième année d'un projet de 2 ans Coordonnées: Dr. Alanna Watt, Department of Biology McGill University, Bellini Life Sciences Bldg., room 2653469 Sir William Osler, Montreal, Quebec Canada H3G 0B1alanna.watt@mcgill.ca Dr....
“Understanding trafficking defects in ARSACS to identify therapeutic targets for disease”- Dr. Paul Chapple
Our previous research has shown that the ARSACS protein sacsin is essential for proper trafficking of other proteins to the cell surface. In the absence of sacsin this process is disrupted, which may lead to the aberrant localisation of key neuronal proteins, stopping...
“Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay”- Dre Martina Crispo Benedetto
Our goal is to generate an AVATAR mouse model to reproduce the heterozygous compound alteration of a Uruguayan-child, in South America. Using the CRISPR/Cas technology we will generate a frameshift SACS variant mouse line, reproducing the father’s modification and...
“Trojan Sacsin Fragments to Study Protein Function ”– Dr. Javier Santos
This project focuses on the production and biophysical characterization of engineered Trojan Sacsin fragments to study protein stability and specific functional features of the protein. Trojan fragments can penetrate human cells allowing us to examine the Sacsin...
“Modelling ARSACS in human in iPSC-derived cerebellar organoids ” – Dr. Esther Becker
This project aims to create three-dimensional disease models called ‘organoids’ using induced pluripotent stem cells (iPSCs) from ARSACS patients. Human iPSCs are obtained from individuals’ skin cells by a process known as reprogramming and resemble stem cells present...
“Structural Determination of Sacsin” – Dr. Walid Houry
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a non-treatable neurodegenerative genetic disorder of early childhood and adulthood. When first reported in 1978, ARSACS was described as a unique form of ataxia, accompanied with motor speech...
“Targeting Cav2.1 to recover firing defects and degeneration of Purkinje neurons in ARSACS ” – Dr. Francesca Maltecca
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)...
“Therapeutic Approaches for ARSACS”- Drs. Benoit Gentil and Heather Durham
ARSACS is characterised by the lack of sacsin expression, and the formation of intermediate filaments bundles in neurons and fibroblasts derived from skin biopsies. Our strategy over the last years has been aimed at developing a replacement therapy, by peptide and/or...
“Developing conditional mouse models and new approaches to treating ARSACS” – Dr. Stefan Strack
Mouse models are invaluable for studying disease mechanisms and ultimately treatment. 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...
“Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS – related retinal effects” – Drs. Daniele Galatolo and Giulia De Riso
The overall aim of this project is to identify the potential role of DNA methylation changes as biomarker of ARSACS progression. We previously demonstrated that patients affected by ARSACS showed changes in DNA methylation pattern, indicating that epigenetics might...
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” – Drs. Alanna Watt & Anne McKinney
A compléter Grant: $213,000 Duration: second year of a 2 year project Contact: Dr. Alanna Watt, Department of Biology McGill University, Bellini Life Science Building, room 2653469 Sir William Osler, Montreal, Quebec Canada H3G 0B1 alanna.watt@mcgill.ca Dr. Anne...
“Understanding trafficking defects in ARSACS to identify therapeutic targets for disease” – Dr. Paul Chapple
Our previous research has shown that the ARSACS protein sacsin is essential for proper trafficking of other proteins to the cell surface. In the absence of sacsin this process is disrupted, which may lead to the aberrant localisation of key neuronal proteins, stopping...
“Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay” – Dr. Martina Crispo Benedetto
“Our goal is to generate an AVATAR mouse model to reproduce the heterozygous compound alteration of a Uruguayan-child, in South America. Using the CRISPR/Cas technology we will generate a frameshift SACS variant mouse line, reproducing the father’s modification and...
“Trojan Sacsin Fragments to Study Protein Function ” – Dr. Javier Santos
This project focuses on the production and biophysical characterization of engineered Trojan Sacsin fragments to study protein stability and specific functional features of the protein. Trojan fragments can penetrate human cells allowing us to examine the Sacsin...
Dia Internacional das Ataxias Conference au Portugal
Une journée internationale sur les ataxies se tiendra au Portugal le 25 septembre 2024. Cet événement est organisé par M. Carlos Neves, Association Portugaise des Ataxies Héréditaires et Mme Susana Reis, Podcast Ataxia e Agora. Dr Federico Herrera, membre de l'équipe...
Dia Internacional das Ataxias Conference in Portugal
An International Ataxia Day conference will be held in Portugal on September 25, 2024. This event is organized by Mr. Carlos Neves, Portuguese Association of Hereditary Ataxias and Mrs. Susana Reis, Podcast Ataxia e Agora. Dr. Federico Herrera, member of the ARSACS...
S. Gobeil and B. Trainor au congrès de l’Association canadienne des conseillers en génétique 2024
Sonia Gobeil (cofondatrice de la Fondation de l'Ataxie Charlevoix-Saguenay) et Betsy Trainor (membre du conseil de la Fondation) participeront au panel Patient and Advocacy lors du congrès de l'Association canadienne des conseillers en génétique à Québec, 25-28...
S. Gobeil and B. Trainor at the Canadian Association of Genetic Counsellors Conference 2024
Sonia Gobeil (Co-founder of the Ataxia Charlevoix-Saguenay Foundation) and Betsy Trainor (Board member of the Foundation) will be part of the Patient and Advocacy Panel at the Genetic Counsellors Conference in Quebec City, September 25-28, 2024. The complex journeys...
UK ATAXIA finance la recherche sur l’ARSACS
Dr Federico Herrera reçoit du financement d' UK Ataxia pour son projet de recherche sur l'ARSACS “Towards a pharmacological model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)”. Dr Herrera fait partie de l'équipe de chercheurs ARSACS.
UK ATAXIA supports ARSACS research
Dr. Federico Herrera has received funding from UK Ataxia for his ARSACS research project "Towards a pharmacological model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)". Dr. Herrera is part of the ARSACS research team.
Développer la thérapie génique pour l’ARSACS
Article publié dans le McGill Reporter concernant les recherches du Dr Benoit Gentil en thérapie génique et le partenariat stratégique et financier de 200 000$ entre la Fondation et NeuroSphere.
Developping gene therapy for ARSACS
Article published in the McGill Reporter regarding Dr. Benoit Gentil's gene therapy research and the $200,000 strategic and financial partnership between the Foundation and NeuroSphere.
Publication de la recherche sur l’ARSACS du Dre Maltecca
“Reduction of Sacsin in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix- Saguenay” la recherche du Dre Francesca Maltecca et son équipe a été publiée dans le Brain Communications Journal le 18 juillet 2024. La Fondation a...
ARSACS research published
“Reduction of Sacsin in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix- Saguenay” research conducted by Dr. Francesca Maltecca and her team has been published in the Brain Communications Journal on July 18, 2024. The research...
A new challenge for your brain while contributing to the ARSACS cause.
To contribute to ARSACS research, Guillaume Bourgeois has created a new game which consists of placing all the pieces of a puzzle so as to only show today's date. Every day, a new solution and therefore a new challenge. The profits will be donated to the Foundation....
Un nouveau défi méninges tout en contribuant à la cause ARSACS
Guillaume Bourgeois a créé un nouveau jeu qui consiste à placer toutes les pièces d’un puzzle de sorte à ne montrer que la date du jour. Chaque jour, une nouvelle solution donc un nouveau défi. Les profits seront versés à la Fondation. Pour vous procurer le puzzle...
Résumé des articles PROSPAX (dans des termes simplifiés)
Suite aux récentes publications de PROSPAX sur l'ARSACS dans la National Library of Medicine, un résumé des 2 articles (dans des termes simplifiés pour non scientifiques) est maintenant disponible. Sincères remerciements à Mme Scarlett Parr-Reid d'Ataxia Uk, Dr Sirio...
Layman summary of PROSPAX publications available
Following the scientific PROSPAX publications on ARSACS in the National Library of Medicine, a layman summary of the 2 articles is now available. Special thanks to Scarlett Parr-Reid from Ataxia UK, Drs Sirio Cocozza and Matthis Synofzik from PROSPAX for their...
Reduction of Sacsin in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix- Saguenay
Reduction of Sacsin in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix- Saguenay – Dr. Francesca Maltecca. Published in the Brain Communications Journal on July 18, 2024.. The research has been funded by the ARSACS Foundation
Premières publications de PROSPAX
Les premiers résultats du projet PROSPAX sont publiés dans National Library of Medicine. Les 2 premières publications portent sur l'ARSACS. La Fondation est l'une des 3 organisations de patients participant à ce projet. Lancé en septembre 2020, PROSPAX est le résultat...
First PROSPAX Publications are out
First PROSPAX results are published in the National Library of Medicine. The first 2 publications are related to ARSACS. The Foundation is one of the 3 patient advocacy organisations participating in the PROSPAX consortium. PROSPAX, a project launch in September 2020,...
Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX)
Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX) – . First PROSPAX results published in the National Library of Medicine..
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter Study (PROSPAX)
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter Study (PROSPAX) – . PROSPAX results published in the National Library of Medicine..
Rapport du projet de recherche du Dr Babu
“Identifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients” – rapport de recherche du Dr Mohan Babu (Université de Régina). Ce projet a été financé par la Fondation en 2022-2023.
Dr. Babu’s ARSACS research report
“Identifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients” – research report from Dr. Mohan Babu (University of Regina). . This project was funded by the ARSACS Foundation in 2022-2023.
La recherche sur l’ARSACS du Dr Strack publiée dans The Cerebellum
“Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay” - recherche du Dr Strack publiée dans The Cerebellum en mai 2024.
Dr. Strack’s ARSACS research published in The Cerebellum
“Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay”-Dr. Strack's research published in The Cerebellum in May 2024.
A Glimmer of Hope- Interview with Sonia Gobeil
Interview with Sonia Gobeil, co-founder of the Ataxia Charlevoix- Saguenay Foundation, on the ARSACS research progress. Interview at TVA Nouvelles on May 3 is available only in French.
Une lueur d’espoir – Entrevue avec Sonia Gobeil
Entrevue avec Sonia Gobeil, cofondatrice de la Fondation de l'Ataxie Charlevoix- Saguenay, sur les avancées de la recherche ARSACS, entrevue diffusée à TVA Nouvelles le 3 mai dernier.
Partenariat de 200 000$ entre la Fondation et NeuroSphere
La Fondation de l’Ataxie Charlevoix Saguenay et NeuroSphere sont heureux d’annoncer un partenariat stratégique et financier de 200 000$ pour soutenir la recherche de l'équipe du Dr Benoit Gentil. Ce partenariat qualifié d’innovation et à fort potentiel s’aligne...
A $200,000 Partnership between the Foundation and NeuroSphere
The Ataxia Charlevoix Saguenay Foundation and NeuroSphere are pleased to announce a strategic and financial partnership of $200,000 to support Dr. Benoit Gentil's research project. This partnership, described as innovative and with high potential, aligns perfectly...
Identifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients – by Dr. Mohan Babu, University of Regina
Identifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients – by Dr. Mohan Babu, University of Regina . This project was funded by the ARSACS Foundation in 2022-2023
Rapport du projet de recherche des Dr Gentil et Dre Durham
“Therapeutic Approaches for ARSACS” – rapport du projet de recherche des Dr Gentil et Dre Durham (Université McGill) . Ce projet a été financé par la Fondation en 2022-2023.
Drs. Gentil and Durham’s Research Report
“Therapeutic Approaches for ARSACS” - research report from Drs. Benoit Gentil and Heather Durham (McGill University). . This project was funded by the ARSACS Foundation in 2022-2023.
Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay
Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay – Dr. Stefan Strack. Dr. Strack’s article published in The Cerebellum in May 2024..
Rapport du projet de recherche des Dre Watt et Dre McKinney
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS”- rapport du projet de recherche des Dre Watt et Dre McKinney (Université McGill) . Ce projet a été financé par la Fondation en 2022-2023.
Dr. Watt and Dr. McKinney’s Research Report
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” research report from Dr. Watt and Dr. McKinney (McGill University). . This project was funded by the ARSACS Foundation in 2022-2023.
CPTA- Points saillants pour les ataxies
Fondé en 2021, Critical Path for Therapeutics for the Ataxias (CPTA) est un consortium axé sur l'accélération du développement thérapeutique pour les ataxies. La Fondation est membre de ce consortium. Faits saillants et réalisations du consortium (en version anglaise...
CPTA Highlights for Ataxias
Founded in 2021, Critical Path for Therapeutics for the Ataxias (CPTA) is a consortium focused on accelerating therapeutic development for Ataxias. The Ataxia Charlevoix- Saguenay Foundation is a member of the consortium. Consortium Highlights and Achievements.
Thank you Mr. Riverin and Tremblay for supporting ARSACS !
Thank you to Mr. Benoit Riverin and Mr. Jean-François Tremblay for organising a fundraiser to support ARSACS research. Their initiative raised awareness in the community and contributed to a cause that is close to our hearts. An amount of $6,150 was raised during an...
Merci MM. Riverin et Tremblay pour votre soutien à la cause ARSACS !
Merci à M. Benoit Riverin et M. Jean-François Tremblay d'avoir organisé une levée de fonds pour soutenir la recherche sur l'ARSACS. Votre initiative a permis de sensibiliser la communauté et d'agir pour une cause qui nous tient à coeur. Un montant de 6 150$ a été...
Therapeutic Approaches for ARSACS – by Dr. Benoit Gentil and Dr. Heather Durham, McGill University
Therapeutic Approaches for ARSACS – by Dr. Benoit Gentil and Dr. Heather Durham, McGill University . This project was funded by the ARSACS Foundation in 2022-2023
Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS – by Dr. Alanna Watt and Dr. Anne McKinney, McGill University
Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS – by Dr. Alanna Watt and Dr. Anne McKinney, McGill University . This project was funded by the ARSACS Foundation in 2022-2023
Programme d’exercices à domicile pour les personnes atteintes de l’ARSACS
La Fondation et l'équipe de recherche du GRIMN sont heureuses de présenter un programme d'exercices spécialement conçu pour les personnes vivant avec l'ARSACS. Selon la communauté médicale, un programme d'exercices à domicile adapté aux capacités des personnes peut...
An exercise program for individuals affected by ARSACS
The Foundation and the GRIMN research team is pleased to introduce an exercise program tailored specifically for individuals affected by ARSACS. According to the medical community, an exercise program developed according to the person’s capabilities can improve the...
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population – . Research conducted in Iran and published in The Cerebellum in April 2024..
Omaveloxolone testée sur la souris ARSACS – Drs Schmahmann et Lin
Cette recherche est financée conjointement par la Fondation de l'Ataxie Charlevoix- Saguenay et le Massachusetts ARSACS Fundraiser, fonds créé par des familles aux E.U. Des études et essais cliniques récents ont démontré que l’omaveloxolone (nom de marque Skyclarys)...
“Physiological and behavioral effects of Omaveloxolone in an ARSACS mouse model”- Drs. Schmahmann et Lin
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a relentlessly progressing genetic ataxia with no known treatment. A major mechanism underlies the pathogenesis of ARSACS is mitochondrial dysfunction that causes oxidative stress, resulting in...
Omaveloxolone being tested on ARSACS mouse – Drs Schmahmann and Lin ‘ research project
This project is jointly funded by the Ataxia Charlevoix- Saguenay Foundation and the Massachusetts General ARSACS Fundraiser, fund created by families in the USA. Recent studies and clinical trials have demonstrated that omaveloxolone (brand name Skyclarys) can...
“Physiological and behavioral effects of Omaveloxolone in an ARSACS mouse model”- Drs. Schmahmann and Lin
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a relentlessly progressing genetic ataxia with no known treatment. A major mechanism underlies the pathogenesis of ARSACS is mitochondrial dysfunction that causes oxidative stress, resulting in...
“Alterations of SACSIN RNA-binding properties are connected to the development of ARSACS” – Dr. Roberto Giambruno
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease mainly characterized by cerebellar ataxia, progressive spasticity and peripheral neuropathy. The disease is caused by mutations in the SACS gene (13q11) that alter the...
“Alterations of SACSIN RNA-binding properties are connected to the development of ARSACS” – Dr. Roberto Giambruno
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease mainly characterized by cerebellar ataxia, progressive spasticity and peripheral neuropathy. The disease is caused by mutations in the SACS gene (13q11) that alter the...
Soutenez l’initiative d’Ally et faites une différence
En achetant des items de promotion ARSACS, non seulement vous obtenez un bon produit mais vous contribuez directement à la cause ARSACS. Chaque item que vous achetez soutient la recherche. Visitez le site actionforally.com pour voir la collection et effectuer un achat...
Join Ally’s initiative in making a difference
By purchasing Ally's special ARSACS promotion items, you not only get a fantastic product but also contribute directly to the ARSACS cause. Every item you buy goes towards supporting the ARSACS research. Visit actionforally.com to browse the collection and make a...
Étude d’Histoire Naturelle PROSPAX
Le projet PROSPAX (PROgression chart of SPAstic ataXias), qui porte sur l'ARSACS et SPG7, est une collaboration entre des neurologues de plusieurs pays d’ Europe et du Canada. Le principal objectif est de mieux comprendre comment les ataxies spastiques progressent au...
PROSPAX Natural History Study
The PROSPAX (PROgression chart of SPAstic ataXias) project, which focuses on ARSACS and SPG7 ataxias , is a collaborative effort between neurologists across several sites throughout Europe and Canada. The overall aim is to gain a better understanding of how spastic...
OVD finance la recherche sur l’ARSACS
L’ Organizzazione di volontariato (ODV) est heureuse d'annoncer qu'elle financera le projet du Dr Roberto Giambruno “Alterations of SACSIN RNA-binding properties are connected to the development of ARSACS” en 2024-2025 viaTelethon. ODV est une organisation de...
ODV finances ARSACS research
The Organizzazione di volontariato (ODV) finances Dr. Roberto Giambruno's research "Alterations of SACSIN RNA-binding properties are connected to the development of ARSACS" in 2024-2025 . ODV, a volunteer organization in Italy founded by Susanna Deluca and...
Mme Carole Gailloux se joint au Conseil
La Fondation de l’ Ataxie Charlevoix-Saguenay est très heureuse d’annoncer que Mme Gailloux s’est jointe au conseil d’administration. “Mme Gailloux sera essentielle pour nous accompagner dans la planification stratégique de la Fondation, grâce à sa vaste expérience et...
Mrs. Carole Gailloux joins the Foundation’s Board
The Ataxia Charlevoix- Saguenay Foundation is pleased to announce that Mrs. Carole Gailloux has joined its Board of Directors. "Mrs Gailloux brings a wealth of experience and expertise to our team with a skill set that will undoubtedly enrich our Board strategic...
Soumettez votre projet de recherche sur l’ARSACS
La Fondation invite les chercheurs à soumettre leurs projets de recherche sur l'ARSACS. Nous recherchons des projets innovants qui contribueront de manière significative au développement d'un traitement pour l'ARSACS. Nouveauté cette année : « offre de financement de...
Submit your ARSACS Research Proposal
The Foundation is inviting researchers to submit their ARSACS projects. We are seeking innovative and impactful research projects that will contribute significantly towards the development of a treatment for ARSACS. New this year: “start-up financing offer” (Seed...
Dr. Marc Rivière joins the Foundation’s Board
The Ataxie Charlevoix-Saguenay Foundation is very pleased to announce that Dr. Marc Rivière has joined its board of directors. An executive with extensive experience creating and managing clinical programs, Dr. Rivière’s expertise encompasses all aspects of drug...
Dr Marc Rivière se joint au Conseil
La Fondation de l' Ataxie Charlevoix-Saguenay est très heureuse d’annoncer que le Dr Marc Rivière s’est joint à son conseil d’administration. Cadre expérimenté avec une vaste expérience dans la création et la gestion de programmes cliniques, l’expertise du Dr Rivière...
L’Université Harvard vous invite à participer à un sondage important sur l’ARSACS
Cette invitation s'adresse à tous les participants à travers le monde et ne se limite pas aux E.U. Nous recherchons des personnes de 18 ans ou plus, qui parlent anglais et qui ont reçu un diagnostic ARSACS. L'objectif est de contacter tous les participants ( vidéo...
Harvard University invites you to participate in an important ARSACS research survey
This invitation is opened to all participants around the world, not limited to USA patients. Looking for people who are 18 years or older who speak English and have a confirmed ARSACS diagnosis . The objective is to interview all participants (1 hour video call) in...
Article du Dr Gentil dans BioRvix
Article du Dr Benoit Gentil sur les fonctions de la sacsine publié dans BioRxiv "Interactors of sacsin's DNAJ domain identify function in organellar transport and membrane composition relevant to ARSACS pathogenesis ׀ BioRvix". L'article a été soumis pour être évalué...
Dr. Gentil’s article on ARSACS in BioRvix
Dr. Benoit Gentil's article on the functions of sacsin has been published in preprint - "Interactors of sacsin's DNAJ domain identify function in organellar transport and membrane composition relevant to ARSACS pathogenesis ׀ BioRvix". The article has been submitted...
Projet de recherche du Dr Chapple financé pour une deuxième année
La Fondation est fière d'annoncer que le Dr Paul Chapple continuera sa recherche sur l'ARSACS “Metabolic rewiring in cellular models of ARSACS” grâce au financement accordé par la Fondation.
Dr. Chapple’s second year ARSACS project being funded
The Foundation is pleased to announce that Dr. Chapple has received a grant to continue his second year ARSACS research entitled "Metabolic rewiring in cellular models of ARSACS".
“Metabolic rewiring in cellular models of ARSACS” – Dr Paul Chapple
The viability of neurons in the brain depends on a complex series of interconnected biochemical reactions that constitute cellular metabolism. Disruption of these metabolic pathways is associated with neurological conditions, including Alzheimer’s and Parkinson’s....
“Metabolic rewiring in cellular models of ARSACS” – Dr. Paul Chapple
The viability of neurons in the brain depends on a complex series of interconnected biochemical reactions that constitute cellular metabolism. Disruption of these metabolic pathways is associated with neurological conditions, including Alzheimer’s and Parkinson’s....