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:

  • Financing of several promissing research projects with reearchers that are experts in this field.
  • Conducting  clinical trials
  • Forming partnerships with other organizations and pharmaceutical companies to further the understanding of this disease and conduct independent research.

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.

A new additional initiative this year: “start-up financing offer” (Seed Grant). In addition to the standard financing grant which can offer to a maximum of $100,000 CAN, the Foundation offers to finance projects up to a maximum $25,000 CAN  to researchers who have never been funded by the Foundation in the past. Both types of grants are  for a 12 month period with a possibility for renewal. It should be noted that the grant funding from the Foundation cannot be used to cover indirect costs. See Application Form and ARSACS Call for Proposals.

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 2023-2024

Press release   (october 9, 2023)

“A mouse-human single nuclei-RNA seq profiling in ARSACS cerebellum: understanding how alterations in different cell types contribute to neurodegenration ” – Dr. Francesca Maltecca

This project aims to evaluate the contribution of the different cerebellar cell types to neurodegeneration in ARSACS. In our recent publication (Del Bondio et al., 2023) we showed that in the ARSACS mouse cerebellum there is increased expression of astrocytic...

read more

Research Project Reports

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.

Project description.

PROSPAX survey results

Highlights of the 2022 ICAR and AGI conferences

PROSPAX Natural History Study

 

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.

CONFERENCES 

7th International ARSACS Symposium, October 19-20, 2023 in Montreal

A great opportunity to learn about the latest advancements in ARSACS research and to meet the ARSACS research team. You can attend this free scientific symposium either in-person or on-line.  This event is opened to anyone who is interested in rare neurological disease.The symposium begins directly following the close of the 2023 World Congress of Neurology (WCN), October 19 at 3 p.m.  New this year, a panel discussion with ARSACS patients, carers and partners.

Program

Free Registration

 

Ataxia Global Initiative Conference

The Ataxia Global Initiative (AGI) is a worldwide platform for clinical research in Ataxias. The conference was on November 4th – 5th   immediately after ICAR 2022. Both conferences included researchers, pharmaceutical companies and patient group representatives. Highlights of the conferences.

Publications on ARSACS

May, 2024 - "Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay"
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"
January, 2023 - “AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein sacsin reveals key residues for ATPase activity"
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”
September 9, 2021 -"The ataxia protein sacsin is required for integrin trafficking and synaptic organization"
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"
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"
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"
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

 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"
January, 2023 - “AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein sacsin reveals key residues for ATPase activity"
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”
September 9, 2021 -"The ataxia protein sacsin is required for integrin trafficking and synaptic organization"
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"
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"
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"
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

 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”
September 9, 2021 -"The ataxia protein sacsin is required for integrin trafficking and synaptic organization"
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"
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"
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"
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

 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”
September 9, 2021 -"The ataxia protein sacsin is required for integrin trafficking and synaptic organization"
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"
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"
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"
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

 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”
September 9, 2021 -"The ataxia protein sacsin is required for integrin trafficking and synaptic organization"
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"
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"
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"
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

 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