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 Foundation provides grants and opportunities to researchers.The research grant could be as high as $100,000 for a 12 month period and could be renewed for a second year. It should be noted that the grant funding from the Foundation cannot be used to cover indirect costs. See Financing Offer and ARSACS Appendix.
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.
Current ARSACS Research Projects in 2022-2023
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” – Drs. Alanna Watt & Anne McKinney
One of the hallmark features of ARSACS is dysfunction and eventual death of Purkinje cells in the cerebellum, which contributes to ataxia. Strikingly, not all Purkinje cells become ill and die: rather, specific patterns of vulnerability and resilience to cell death...
“Charting the neurodevelopmental stage of ARSACS (NeurodevARSACS): A cross-species longitudinal characterization of the early molecular changes in the brain, CSF and blood” – Drs. Justin Wolter, Matthis Synofzik & David Mengel
It is well established in neurodegenerative diseases that early therapeutic intervention - ideally before neurodegenerative cascades begin to breakdown neuronal function - is key to the success of disease-modifying therapies. Yet we do not understand the early...
“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...
“Unraveling the role of glial cells in ARSACS Rationale” – Drs. Federico Herrera, Adelaide Fernandes & Michelle Adams
Glial cells play key roles in developmental and neurodegenerative disorders, including some with remarkable similarities with ARSACS, such as Alexander disease and Giant Axonal Neuropathy. We and others have found high levels of sacsin expression in rodent and human...
“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....
“Identifying Clinically Relevant Compounds and Their Molecular Targets Modulating the Purkinje Neuronal Excitability in ARSACS patients” – Dr.Mohan Babu
Despite extensive research, the underlying causes of neurodegeneration in ARSACS still remain unclear, and thus there is a need for identifying effective therapies for ARSACS patients. My lab over the past several years has focused on characterizing the changes of...
“Targeting transmembrane ion balance to restore Purkinje cell functionality in ARSACS” – Dr. Francesca Maltecca
We identified in murine Purkinje cells a specific interaction of sacsin with proteins regulating transmembrane ion balance, which are required for tuning the firing properties of these neurons. Our functional studies support a deregulation of ion conductance in...
“Structural Determination of Sacsin” – Dr. Walid Houry
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a juvenile progressive movement disorder caused by mutations in a gene called SACS, which produces a protein with the same name (SACS or sacsin). The disease is characterized by very early onset,...
“Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS – related retinal effects” – Dr. Daniele Galatolo
Retinal and eye abnormalities are among the clinical hallmarks in ARSACS and have been described since first reports. Those defects have been confined to an unexplored field by a molecular point of view, compared to those related to brain and cerebellum that have been...
“Effect of neuroprotective molecules dietary supplementation on ARSACS zebrafish model development”- Dr. Valentina Naef
ARSACS is incurable neurodegenerative disorder and there is an urgent need to define new therapies. The expected results of this project are to evaluate, through preclinical studies, the effectiveness and usefulness of an experimental diet containing neuroprotective...
Research Project Reports
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).
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.
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).
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.
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.
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.
CONFERENCES
International Congress for Ataxia Research Nov 1-4, 2022
The National Ataxia Foundation (NAF), the Friedreich’s Ataxia Research Alliance (FARA), and Ataxia UK are pleased to announce that the International Congress for Ataxia Research (ICAR)will be held in Dallas, Texas, USA on November 1-4, 2022.
Delegates may be interested in attending both conferences as the programs are distinct and complimentary to each other.
The Foundation is encouraging the ARSACS researchers to submit an abstract on ARSACS. This is an important opportunity for the researcher and for the Foundation.
Abstract Submission Deadline: June 13, 2022
Ataxia Global Initiative Conference on Nov 4-5, 2022
The Ataxia Global Initiative (AGI) Conference will be held in Dallas, Texas, USA on November 4-5, 2022.
The AGI conference brings together academia, industry as well as patient advocacy organisations and will focus on trial-readiness for ataxias.
The Foundation is enncouraging the ARSACS researchers to submit an abstract on ARSACS.
Abstract Submission Deadline: June 13, 2022.
ARSACS International Symposium, Fall 2023
Unique opportunity: ARSACS International Symposium to be held in Fall, 2023. Details to come.
Publications on ARSACS
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
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
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
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