Research
Strategy
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:
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.
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.
“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...
“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...
“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...
Research Project Reports
March, 2025 - “Discovery of New ARSACS Modifier Genes in the Saguenay Founder Population” by Dr. Simon Girard, Université du Québec à Chicoutimi, Canada.
“Discovery of New ARSACS Modifier Genes in the Saguenay Founder Population” research report from Dr. Simon Girard. This project was funded by the Foundation in 2023-2024.
February, 2025 - “Charting the neurodevelopmental stage of ARSACS (NeurodevARSACS): A cross-species longitudinal characterization of the early molecular changes in the brain, CSF and blood” - Drs. Matthis Synofzik, David Mengel (University of Tübingen, Germany) and Justin Wolter (University of Wisconsin-Madison, USA).
Research report “Charting the neurodevelopmental stage of ARSACS (NeurodevARSACS): A cross-species longitudinal characterization of the early molecular changes in the brain, CSF and blood” from Drs. Justin Wolter, Matthis Synofzik et David Mengel. This project was funded by the Foundation in 2022-2023.
October, 2024 - “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” research report from Dr. Francesca Maltecca. This project was funded by the Foundation in 2022-2023.
May, 2024 - “Identifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients” - Dr. Mohan Babu, Univesity of Regina
“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 Foundation in 2022-2023.
April, 2024 - “Therapeutic Approaches for ARSACS” - Dr. Benoit Gentil and Dr. Heather Durham, McGill Univesity
“Therapeutic Approaches for ARSACS” – research report from Drs. Benoit Gentil and Heather Durham (McGill University). This project was funded by the Foundation in 2022-2023.
April, 2024 - “Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” - Dr. Alanna Watt and Dr. Anne McKinney, McGill Univesity
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” – Dr. Allana Watt and Dr. AcKinney’s’ s research report. This project was funded by the Foundation in 2022-2023.
January, 2024 - "Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS-related retinal defects" - Dr. Daniele Galatolo, IRCCS Fondazione Stella Maris, Pisa, Italy
“Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms ofARSACS-related retinal defects” – Dr. Daniele Galatolo’ s research report. This project was funded by the Foundation in 2022-2023.
January, 2024 - "Towards glial-targeted therapies of ARSACS" - Drs Herrera/Fernandes/Adams’s Research Report
“Towards glial-targeted therapies of ARSACS” final research report from the research team of Drs. Herrera and Fernandes (University of Lisbon) and Dr. Adams
( Bilkent University in Turkey). This project was funded by the Foundation in 2022-2023.
November, 2023 - “Molecular rewiring in cellular models of ARSACS ” - Dr. Chapple, Barts and London Queen Mary’s School of Medicine, London, UK
Progress report for the research project entitled “Molecular rewiring in cellular models of ARSACS ” – Dr. Paul Chapple.
August, 2023 - “Preclinical studies in the Sacs KO mouse model of ARSACS” - Dr. Strack, University of Iowa, USA
Progress report for the research project entitled “Preclinical studies in the Sacs KO mouse model of ARSACS” – Dr. Stefan Strack and his team, project funded by the Foundation in 2021-2022.
May, 2023 - “Unravelling defective trans-synaptic signaling in ARSACS" - Dr. Maltecca,Ospedale San Raffaele, Milan, Italy
Progress report for the research project entitled “Unravelling defective trans-synaptic signaling in ARSACS” – Dr. Francesca Maltecca and her team, project funded by the Foundation in 2021-2022.
April, 2023 - “Unraveling the role of glial cells in ARSACS Rationale" - Drs. Herrera/Fernandes/Adams
Mid term report for the research project entitled “Unraveling the role of glial cells in ARSACS Rationale” – Drs. Federico Herrera (University of Lisbon), Adelaide Fernandes (University of Lisbon) and Michelle Adams (Bilken University, Turkey). Project funded by the Foundation in 2022-2023.
April, 2023 - “Creating an Open Science Repository of ARSACS hiPSCs" - Dr. Nicolas Dupré, CHU de Québec-Université Laval
“Creating an Open Science Repository of ARSACS hiPSCs” research project under the leadersip of Dr. Dupré funded by the Foundation in 2020-2021.
January, 2023 - “Understanding the role of Metals" - Dr. Graham George, University of Saskatchewan.
“Synchrotron Light provides the first clues that ARSACS might involve an altered metallome” according to the research results of Dr. Graham George and his team. This research project entitled “Understanding the role of Metals in ARSACS” was funded jointly by the Foundation and the Richardson Research Fund in 2020-2021.
June, 2022 - “Molecular characterisation of sacsin deficient cells” - Dr. Paul Chapple, Barts and London Queen Mary’s School of Medicine and Dentistry, London, UK
Research report from Dr. Paul Chapple from the Barts and London Queen Mary’s School of Medicine and Dentistry, London UK. The overall project funded by the Foundation was over a 3 year period.
June, 2022 - “Structural Determination and Super Resolution Imaging of Sacsin” - Dr. Houry from Universty of Toronto
“Structural Determination and Super Resolution Imaging of Sacsin” research report under the leadership of Dr. Houry from the University of Toronto and funded by the Foundation in 2021-2022.
April, 2022 - “Discovery of new targets for therapeutic interventions in ARSACS disease”- Krogan Lab’s report
“Discovery of new targets for therapeutic interventions in ARSACS disease”, project report under the leadership of Dr. Nevan Krogan at UCSF. Project funded by the Foundation in 2020-2021.
October, 2020 - “Towards the Structural Determination of Sacsin”- Dr. W. Houry
“Towards the Structural Determination of Sacsin”, a 2 year project funded by the Foundation. This is Dr Houry’s report for the first year (2019-2020).
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 1male. 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.
Partnerships
The Ataxia Charlevoix-Saguenay Foundation is always looking for opportunities to work in partnership with other organizations and pharmaceutical companies to further the understanding of this disease and conduct independent research.
PROSPAX Project
The Ataxia Charlevoix-Saguenay Foundation is one of the 3 patient advocacy organisations participating in the PROgression chart of SPAstic ataXias (PROSPAX) research project. PROPSPAX, a 3 year project launched in September 2020, is a novel collaborative effort between several neurologists across Canada and Europe. This ambitious project aims to study the progression of spastic ataxias over time.
It is an unique opportunity for patients to have their voice heard by researchers, to make sure that the questions they are trying to answer are the ones that are important to a person living with the condition. The PROSPAX project will focus on two conditions – ARSACS and SPG7.
Highlights of the 2022 ICAR and AGI conferences
TREAT-ARCA Project
The Foundation is pleased to represent the ARSACS patients on the research project entitled “Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias” and referrred to TREAT-ARCA
The TREAT-ARCA project, which began in June 2021, is a preclinical research project focused on two rare ataxias: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and COQ8A-ataxia (also known as Autosomal Recessive Cerebellar Ataxia type 2 ARCA2). This 3-year project received funding from the EU’s Horizon 2020 research and innovation programme.
The specific objective is the pre-clinical-research to develop effective therapies for rare diseases. It aims at designing and testing new complementary treatment strategies, including both repurposed and newly identified molecules, as well as gene therapies in two exemplary multisystemic flagship ARSACS and COQ8A-ataxia (ARCA2). Project description.
In November 2022, Ataxia UK, the National Ataxia Foundation (NAF), and the Friedreich’s Ataxia Research Alliance (FARA) co-hosted the International Congress for Ataxia Research (ICAR) in Dallas, Texas, USA, one of the largest gatherings of ataxia researchers to date. The Ataxia Global Initiative (AGI) conference was held immediately after ICAR 2022. Both conferences included researchers, pharmaceutical companies and patient group representatives. Highlights of the conferences.
Critical Path to Therapeutics for the Ataxias consortium project
The Foundation is a member of the Critical Path to Therapeutics for the Ataxias (CPTA) consortium as a patient advocacy group.
The consortium, launched in February 2021, is a public-private partnership focused on optimizing clinical trials for inherited ataxias. It involves the participation of government regulatory and research agencies, academia, patient organizations, and bio-pharmaceutical companies.
C-Path is an independent nonprofit organization created to improve the drug development process.
CPTA Highlights and Achievements March 2024
Catalis Quebec
The Foundation is part of the Catalis partner network as a patient advocacy group representing ARSCAS patients.
Catalis Quebec’s mission is to optimize the clinical research environment in Quebec in order to create an environment that allows an easy access to clinical trials to all patients who wish to participate.
Preclinical and Clinical Trials
The Foundation is ready to conduct preclinical and clinical trials. It has the expertise and the tools available. Furthermore, the existing International ARSACS Patient Registry is a good source of potential patients interested in participating in such a trial.
Publications on ARSACS
January 2025 - ‘Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS
‘Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS’, by Dr. Daniele Galatolo and his team, was published in The Cerebellum in January 2025.
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 by a team of researchers in 2024.
December, 2024 - ''ARSACS: Clinical Features, Pathophysiology and iPS‑Derived Models''
”ARSACS: Clinical Features Pathophysiology and i-ps-Derived Models” – research by Dr. Nicolas Dupré and his team published in The Cerebellum in December, 2024.
December, 2024 - ''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” research conducted by Dr. Fancesca Maltecca and her team that has been published in the Annals of Neurology library on December 6, 2024.
June, 2024 - "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. The first 2 publications are related to ARSACS. “Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX)” –
July, 2024 - "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” research conducted by Dr. Francesca Maltecca and her team has been published in the Brain Communications Journal on July 18, 2024. The research has been funded by the Foundation.
May, 2024 - "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. Strack’s article published in The Cerebellum in May 2024.
January , 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. Gentil’s article on the functions of sacsin published in preprint in BioRvix submitted for peer review.
June, 2024 - "MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter Study " (PROSPAX).
First PROSPAX results published in the National Library of Medicine. The first 2 publications are related to ARSACS . “MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter Study” (PROSPAX )
September, 2023 - "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”– research by Dr. Kari J. Ekenstedt and his team published in Human Genetics in September, 2023.
May, 2023 - “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”– ARSACS research by Dr. Maltecca and her team published in the JCI insights in May, 2023.
April, 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” – research article by Dr. Nicolas Dupré published in Stem Cells International on April 15, 2023.
May, 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”– ARSACS research by Drs. Watt and McKinney from McGill published in the Neurobiology of Disease in May, 2023.
November, 2022 - “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”, research article by Drs. Justin Wolter and Paul Chapple published in Cell Reports on November 1, 2022.
September, 2022 - "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)”, research article by Dr. Mohan Babu and his team published by Elsevier in september, 2022.
June, 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 by a team of researchers in 2022.
March 28, 2022 - "Recessive cerebellar and afferent Ataxias - clinical challenges and future directions"
“Recessive cerebellar and afferent Ataxias – clinical challenges and future directions”, research article by Dr. Nicolas Dupré and his team published in the Nature Reviews | Neurology journal on March 24, 2022.
January, 2023 - “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 theneurodegeneration linked proteinsacsin reveals key residues for
ATPase activity”-research article by Dr. Paul Chapple published in Frontiers, January 13, 2023.
December, 2021 - "Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS"
Drs. Suran Nethisingle and Paola Giunti’s research entitled “Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS” published in the International Journal of Molecular Medicine in October 2021
December, 2021 - “Molecular identiy and location influence Purkinje cell vulnerability in ARSACS mice"
“Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice” article by Drs Watt and Mckinney published in the Frontiers Journal.
October 21, 2021 - “Functional mobility in walking adult population with ataxia Charlevoix-Saguenay”
“Functional mobility in walking adult population with ataxia Charlevoix-Saguenay” Research done by Dr C. Gagnon and her team published in Orphanet Journal of Rare Diseases. First study to focus on adult walkers with ARSACS.
January 24, 2022 - "Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments"
“Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments” , research done by Dr. Federico Herrera and his team in Portugal, published in the Cells Journal on January 16, 2022.
September 9, 2021 -"The ataxia protein sacsin is required for integrin trafficking and synaptic organization"
“The ataxia protein sacsin is required for integrin traficcking and synaptic organisation” article submitted for publication by ARSACS researchers.
March, 2021 -"Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
October 16, 2021 -"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. Maltecca and her team’s research paper published in Neurology.
February 19, 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’s article published in IScience.
December 23, 2020 - "Docosahexaenoic acid in ARSACS: observations in 2 patients"
“Docosahexaenoic acid in ARSACS: observations in 2 patients” published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author.
February, 2021 -"Ciliary Ganglioplegic Migraine Associated with SACS Mutation"
“Ciliary Ganglioplegic Migraine Associated with SACS Mutation” article published by researchers from Republic of Korea in Journal of Ophtalmology and Visual Sciences
December 17, 2020 - "The importance of balancing Sacsin protein levels in ARSACS"
“The importance of balancing Sacsin protein levels in ARSACS” article published in SCA Source.
October 13, 2020 - An excellent source of information on ARSACS published in the GeneReviews
An excellent source of information on ARSACS published in the GeneReviews. GeneReviews is an online database containing peer-reviewed articles that describe specific diseases.
December 22, 2020 - "Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spatic Ataxia of Charlevoix-Saguenay""
ARSACS_in_Iran_case_report article published in Frontiers in Genetics.
October 23, 2018 - “Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics”
“Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” by Dr. Benoit Gentil published in the Federation of American Societies for Experimental Biology Journal (FASEBJ).
February 14, 2020 - "A new measuring stick for ARSACS"
“A new measuring stick for ARSACS” by Dr. Cynthia Gagnon published in the SCA Source.
September 19, 2018 - "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, Orphanet Journal of Rare Diseases.
August 29, 2018 - "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.
June 21, 2018 - "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 and Dr Alanna Watt, The Journal of Physiology.
May 29, 2017 - A research paper looking at the cytoskeleton in cells cultured from ARSACS patients
A research paper by Dr. Paul Chapple published in the Human Molecular Genetics journal looking at the cytoskeleton in cells cultured from ARSACS patients.
List of publications from 1979 to January 19, 2019
List of publications on ARSACS from 1979 to January 19,2019
January , 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. Gentil’s article on the functions of sacsin published in preprint in BioRvix submitted for peer review.
May, 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”– ARSACS research by Drs. Watt and McKinney from McGill published in the Neurobiology of Disease in May, 2023.
May, 2023 - “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”– ARSACS research by Dr. Maltecca and her team published in the JCI insights in May, 2023.
April, 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” – research article by Dr. Nicolas Dupré published in Stem Cells International on April 15, 2023.
January, 2023 - “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 theneurodegeneration linked proteinsacsin reveals key residues for
ATPase activity”-research article by Dr. Paul Chapple published in Frontiers, January 13, 2023.
November, 2022 - “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”, research article by Drs. Justin Wolter and Paul Chapple published in Cell Reports on November 1, 2022.
September, 2022 - "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)”, research article by Dr. Mohan Babu and his team published by Elsevier in september, 2022.
March 28, 2022 - "Recessive cerebellar and afferent Ataxias - clinical challenges and future directions"
“Recessive cerebellar and afferent Ataxias – clinical challenges and future directions”, research article by Dr. Nicolas Dupré and his team published in the Nature Reviews | Neurology journal on March 24, 2022.
January 24, 2022 - "Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments"
“Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments” , research done by Dr. Federico Herrera and his team in Portugal, published in the Cells Journal on January 16, 2022.
December, 2021 - "Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS"
Drs. Suran Nethisingle and Paola Giunti’s research entitled “Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS” published in the International Journal of Molecular Medicine in October 2021
December, 2021 - “Molecular identiy and location influence Purkinje cell vulnerability in ARSACS mice"
“Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice” article by Drs Watt and Mckinney published in the Frontiers Journal.
October 21, 2021 - “Functional mobility in walking adult population with ataxia Charlevoix-Saguenay”
“Functional mobility in walking adult population with ataxia Charlevoix-Saguenay” Research done by Dr C. Gagnon and her team published in Orphanet Journal of Rare Diseases. First study to focus on adult walkers with ARSACS.
October 16, 2021 -"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. Maltecca and her team’s research paper published in Neurology.
September 9, 2021 -"The ataxia protein sacsin is required for integrin trafficking and synaptic organization"
“The ataxia protein sacsin is required for integrin traficcking and synaptic organisation” article submitted for publication by ARSACS researchers.
March, 2021 -"Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
February, 2021 -"Ciliary Ganglioplegic Migraine Associated with SACS Mutation"
“Ciliary Ganglioplegic Migraine Associated with SACS Mutation” article published by researchers from Republic of Korea in Journal of Ophtalmology and Visual Sciences
February 19, 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’s article published in IScience.
December 23, 2020 - "Docosahexaenoic acid in ARSACS: observations in 2 patients"
“Docosahexaenoic acid in ARSACS: observations in 2 patients” published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author.
December 22, 2020 - "Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spatic Ataxia of Charlevoix-Saguenay""
ARSACS_in_Iran_case_report article published in Frontiers in Genetics.
December 17, 2020 - "The importance of balancing Sacsin protein levels in ARSACS"
“The importance of balancing Sacsin protein levels in ARSACS” article published in SCA Source.
October 13, 2020 - An excellent source of information on ARSACS published in the GeneReviews
An excellent source of information on ARSACS published in the GeneReviews. GeneReviews is an online database containing peer-reviewed articles that describe specific diseases.
February 14, 2020 - "A new measuring stick for ARSACS"
“A new measuring stick for ARSACS” by Dr. Cynthia Gagnon published in the SCA Source.
October 23, 2018 - “Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics”
“Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” by Dr. Benoit Gentil published in the Federation of American Societies for Experimental Biology Journal (FASEBJ).
September 19, 2018 - "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, Orphanet Journal of Rare Diseases.
August 29, 2018 - "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.
June 21, 2018 - "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 and Dr Alanna Watt, The Journal of Physiology.
May 29, 2017 - A research paper looking at the cytoskeleton in cells cultured from ARSACS patients
A research paper by Dr. Paul Chapple published in the Human Molecular Genetics journal looking at the cytoskeleton in cells cultured from ARSACS patients.
List of publications from 1979 to January 19, 2019
List of publications on ARSACS from 1979 to January 19,2019