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 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.
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 promissing 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
2025-2026
The Foundation would like to thank the Richardson Trust Fund for its generous contribution of $150K in order to jointly fund 3 research projects.
“Targeting Scn4b as a therapy to rescue ataxia in a mouse model of ARSACS” – Dr. R. Anne McKinney
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…
“Redefining ARSACS: Exploring TDP-43 Proteinopathy as a Novel Pathogenic Mechanism ” – Dr. François Gros-Louis
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…
“Scalable therapeutic testing in the ARSACS mouse” – Drs. Justin Wolter & Huaxia Wang
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…
“Therapeutic Approaches for ARSACS”- Dr. Benoit Gentil and Dr. Heather Durham
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 minisacsin) that can fit into a viral vector for delivery to nerve cells. In mouse…
“Structural Determination of Sacsin” – Dr. Walid Houry
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…
“Developing conditional mouse models and new approaches to treating ARSACS” – Dr. Stefan Strack
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…
“ 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)…
“Characterization of Clinically Relevant Compounds Modulating the ARSACS associated Phenotyре” – Dr. Mohan Babu
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…
“Exploring the contributions of DCN alterations to cerebellar dysfunction in ARSACS” – Dr. Alanna Watt
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…
“Unveiling the Role of Microglia in ARSACS: A Multi-Model Approach Integrating Human Microglial and Zebrafish Models” – Dr. Devid Damiani
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…
“Advanced MRI studies to achieve microstructural insight and identify imaging biomarkers in ARSACS ” – Dr. Roberta LaPiana
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…
“Exploring the Role of Sacsin on Blood-Brain Barrier Cell Structure, Behavior and Function” – Dr. Federico Herrera
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—a protective layer that keeps harmful substances…
“A transcriptomic approach to drug discovery against ARSACS ” – Dr. Nicolas Dupré
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…
Research Tools Available
Sacs Knock Out mouse (# 033221)
Sacs Knock In R272C mouse (# 033385)
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.
ARSACS Natural History
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.
Publications on ARSACS
Alterations in the Na+/H+Exchanger NHE6 and Glutamate Transportersmay Influence Purkinje Cell Fate in ARSACS
Alterations in the Na+/H+Exchanger NHE6 and Glutamate Transportersmay Influence Purkinje Cell Fate in ARSACS – Louis-Charles Masson, Atchaya S. Kanagasabai, Brenda Toscano Márquez, Julia Tourbina-Kolomiets, Francois Charron, Alanna J. Watt, R. Anne McKinney. Research by Louis-Charles Masson and colleagues..
Genetic Analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix- Saguenay
Genetic Analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix- Saguenay – . An article published in BMC Medical Genomics in 2025..
Scalp acupuncture combined with physiotherapy for ARSACS
Scalp acupuncture combined with physiotherapy for ARSACS – . A case report published in China in the Helyion Journal in 2024..
Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report
Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report – . Research conducted in Uruguay and published in the Journal of Medical Case Reports in August 2025..
Long-term benefits of TUDCA supplement in ARSACS zebrafish model
Long-term benefits of TUDCA supplement in ARSACS zebrafish model – Dr. Valentina Naef. Research by Dr. Valentina Naef and her team, published in Scientific Reports in July 2025..
Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay
Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay – Dr. Federico Herrera. Based on the work of Dr. Federico Herrera and colleagues, published in July 2025 in Archives of Biochemistry and Biophysics..
S100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix‑Saguenay
S100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix‑Saguenay – Dr. Federico Herrera. Research published in the journal Molecular Neurobiology.. This research has been funded by the ARSACS Foundation in 2022-2023
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies – Dr. Francesca Maltecca. Research published in The Annals of Neurology in May 2025..
An Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX Study
An Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX Study – . Research conducted as part of the PROSPAX consortium, published in the European Journal of Neurology..
Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS
Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS – Dr. Daniele Galatolo. Published in The Cerebellum in January 2025..
Longitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia
Longitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia – Dr. Francesca Maltecca. Research published in the Annals of Neurology library on December 6, 2024..
ARSACS: Clinical Features, Pathophysiology and iPS‑Derived Models
ARSACS: Clinical Features, Pathophysiology and iPS‑Derived Models – Dr. Nicolas Dupré. Research by Dr. Nicolas Dupré and his team published in The Cerebellum..
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
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..
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..
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..
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..
Interactors of sacsin’s DNAJ domain identify function in organellar transport and membrane composition relevant to ARSACS pathogenesis
Interactors of sacsin’s DNAJ domain identify function in organellar transport and membrane composition relevant to ARSACS pathogenesis – Dr. Benoit Gentil. Dr. Gentil’s article on the functions of sacsin published in preprint in BioRvix..
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration – Dr. Kari J. Ekenstedt. Research published in Human Genetics in September, 2023..
A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS
A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS – Dr. Alanna Watt, Dr. Anne McKinney. Research from McGill University published in Neurobiology of Disease..
Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model
Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model – Dr. Francesca Maltecca. Research by Dr. Maltecca published in JCI Insights, May 2023..
In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay – Dr. Nicolas Dupré. Research article by Dr. Nicolas Dupré published in Stem Cells International..
AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein sacsin reveals key residues for ATPase activity
AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein sacsin reveals key residues for ATPase activity – Dr. Paul Chapple. Published in Frontiers, January 13, 2023..
Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization
Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization – Dr. Justin Wolter, Dr. Paul Chapple. Research article published in Cell Reports..
Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – Dr. Mohan Babu. Research published by Elsevier in September 2022..
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra – . Research conducted in Iran and published in The Cerebellum in 2022..
Recessive cerebellar and afferent Ataxias – clinical challenges and future directions
Recessive cerebellar and afferent Ataxias – clinical challenges and future directions – Dr. Nicolas Dupré. Published in Nature Reviews | Neurology journal..
Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments
Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments – Dr. Federico Herrera. Research published in the Cells Journal on January 16, 2022..
Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS
Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS – Dr. Suran Nethisingle, Dr. Paola Giunti. Published in the International Journal of Molecular Medicine in October 2021..
Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice
Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice – Dr. Alanna Watt, Dr. Anne McKinney. Published in the Frontiers Journal..
Functional mobility in walking adult population with ataxia Charlevoix-Saguenay
Functional mobility in walking adult population with ataxia Charlevoix-Saguenay – Dr. Cynthia Gagnon. Published in Orphanet Journal of Rare Diseases..
Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis
Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis – Dr. Francesca Maltecca. Research paper published in Neurology..
The ataxia protein sacsin is required for integrin trafficking and synaptic organization
The ataxia protein sacsin is required for integrin trafficking and synaptic organization – . Article submitted for publication by ARSACS researchers..
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers – Dr. Paola Giunti. Published in Research Article in March 2021..
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease – Dr. Mohan Babu. Article published in IScience..
Ciliary Ganglioplegic Migraine Associated with SACS Mutation
Ciliary Ganglioplegic Migraine Associated with SACS Mutation – . Published in the Journal of Ophthalmology and Visual Sciences..
Docosahexaenoic acid in ARSACS: observations in 2 patients
Docosahexaenoic acid in ARSACS: observations in 2 patients – . Published in BMC Neurology. Does not necessarily reflect the positions of the ARSACS Foundation..
Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spatic Ataxia of Charlevoix-Saguenay
Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spatic Ataxia of Charlevoix-Saguenay – . Published in Frontiers in Genetics..
The importance of balancing Sacsin protein levels in ARSACS
The importance of balancing Sacsin protein levels in ARSACS – . Article published in SCA Source..
An excellent source of information on ARSACS published in the GeneReviews
An excellent source of information on ARSACS published in the GeneReviews – . GeneReviews online database describing specific diseases..
A new measuring stick for ARSACS
A new measuring stick for ARSACS – Dr. Cynthia Gagnon. Published in the SCA Source..
List of publications on ARSACS from 1979 to January 19, 2019
List of publications on ARSACS from 1979 to January 19, 2019 – . Historical archive list..
Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics
Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics – Dr. Benoit Gentil. Published in FASEBJ..
Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada
Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada – Dr. Simon Girard. Research published in Genetics in Medicine Open, May 2025..
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay – Dr. Cynthia Gagnon. Published in Orphanet Journal of Rare Diseases..
An exploratory natural history of ataxia of Charlevoix-Saguenay
An exploratory natural history of ataxia of Charlevoix-Saguenay – Dr. Cynthia Gagnon. American Academy of Neurology..
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS – Dr. Anne McKinney, Dr. Alanna Watt. Published in The Journal of Physiology..
A research paper looking at the cytoskeleton in cells cultured from ARSACS patients
A research paper looking at the cytoskeleton in cells cultured from ARSACS patients – Dr. Paul Chapple. Published in the Human Molecular Genetics journal..