Privacy Policy
This policy explains your rights relating to the collection, use, and disclosure of your personal information by the Ataxia Charlevoix–Saguenay Foundation (hereafter the “Foundation”).
A. Purpose and Basis of Personal Information Collection
Purpose. The Foundations collects your personal information for the purpose of maintaining a registry of patients affected by Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (hereafter “ARSACS”).
The registry allows the Foundation to:
- promote and encourage research regarding ARSACS
- inform by email those in the registry of opportunities to participate in research on ARSACS
- collect survey information of individuals diagnosed with ARSACS in order to formulate market evaluations that may be provided to pharmaceutical companies in an anonymized form.
In the future, the Foundation may also use this information for other purposes compatible with the ones described above.
Basis. The collection, use, and disclosure of this personal information is based on your consent to the conditions described in this policy, which the registration reform requires you to explicitly accept.
B. Use, Disclosure, and Storage of Personal Information
Your personal information is only accessible, within the Foundation, to the registry administrator. The registry administrator will contact you once per year to ensure that your information is up to date.
Storage. Your personal information will be stored in an encrypted form in a database situated in Montreal. Encrypted backup copies of this data will be held in a storage service in the United States provided by Dropbox Inc. This service is a certified participant in the EU-U.S. Privacy Shield Framework which the European Commission has approved as ensuring an adequate level of protection to justify the transfer of personal information to the United States.
Encryption. Personal information submitted to the registry is encrypted in transit using the HTTPS protocol. Personal information held in the registry is encrypted at rest.
Statistics. The Foundation will aggregate and anonymize information in the registry and will use these statistics in public awareness campaigns, as well as campaigns targeting companies, notably regarding the market that may exist for, among other things, treatment and diagnostics relevant to ARSACS.
Third parties. To carry out maintenance, hosting, and development of the registry, the Foundation will allow certain third-party service providers to access the unencrypted contents of the registry. Such access will be limited to what is necessary for these purposes, and the information will be neither used, nor stored, nor disclosed by these third parties for any other purpose.
Disclosure. The Foundation will not disclose personal information in the registry for any purpose other than those set out elsewhere in this policy.
Retention. The personal information in the registry will be retained until the person concerned withdraws their consent or until research and awareness regarding ARSACS are no longer necessary. At this time, the relevant information will be destroyed, erased, or anonymized. All of the copies of the relevant information in the possession of the Foundation will then be erased in accordance with industry best practices.
C. Your Rights Under This Policy
Access. You have the right to receive, on request, a copy of your personal information from the Foundation in a machine-readable format.
Rectification. You have the right to ask that your personal information be rectified to correct any inaccuracy that it may contain.
Withdrawal. You have the right to withdraw your consent to the processing of your personal information at any time, subject to a reasonable delay and to any legal or contractual restriction binding the Foundation. You are in no way obligated to consent to the Foundation’s collection of your personal information, but without your consent, your information will not contribute to the registry’s purpose and the Foundation will no longer be able to send you relevant information by email.
Objection. You have the right to object to the processing of your personal information, in the case that someone else has consented to this processing on your behalf.
Erasure. You have the right to obtain the erasure of your personal information in the situations provided for by law.
Complaints. You have the right to complain to the registry administrator or to the Commission d’accès à l’information regarding the processing of your personal information.
D. Contacting the Foundation
The registry administrator receives all inquiries and complaints, and is generally responsible for this policy. Please write to: administrator@arsacs.com
The Foundation’s mailing address is:
Fondation de l’Ataxie Charlevoix-Saguenay
1000 Sherbrooke West, suite 2100
Montréal (Québec) H3A 3G4
Publications on ARSACS
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.
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)" -
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 )
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.
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 - "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
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
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
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