Persons with ARSACS
ARSACS International Patient Registry
Invitation to join the ARSACS International Patient Registry if you or a family member has received a diagnostic confirming that the person has ARSACS. This invitation stands even if you have already joined another patient registry.
The ARSACS International Patient Registry is a collection of basic information about individuals diagnosed with ARSACS regardless of their country of residence. Your participation in this registry will greatly contribute to the development of treatments for the disorder. The registry is to facilitate contact between ongoing researchers and patients who wish to be contacted about participating in clinical trials. In addition to being an essential tool to researchers, a patient registry will provide an idea of the market size and the potential for trial recruitment which are crucial elements when discussing drug development possibilities with pharmaceutical companies.
The research community needs you and this is a way for you to help finding a treatment.
Registre international des patients ARSACS
Registro internazionale dei pazienti ARSACS
Registro Internacional de Pacientes ARSACS
You are not alone
If you have been diagnosed with ARSACS, you are not alone. Persons affected with ARSACS are found all over the word. According to the Foundation’s ARSACS International Patient Registry statistics, ARSACS is found in all continents.
Your voice is very important. Make your voice heard by participating in ARSACS research.
PROSPAX
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.
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. There is a patient survey currently under development and your participation in the survey is crucial. Stay tuned.
TREAT- ARCA
The Foundation is pleased to represent the ARSACS patients on the research project “Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias”. The project has received funding from the European Union’s Horizon 2020 research and innovation programme under the European Joint Program Rare Disease.
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 ARCAS: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and COQ8A-ataxia (ARCA2). It is a 3 year project.
Preclinical and clinical trials
The Foundation is ready to conduct preclinical and clinical trials. It has the expertise and the tools available and is always looking at opportunities to do clinical trials. However, the participation of ARSACS patients is crucial to conduct such trials.
Research that heals so there is hope
The Foundation’s mission is to discover and develop a treatment for the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Progress has been made over the years in identifying the source of the disorder. Your support is crucial to continue funding high potential projects as well as a clinical trial.
Connect with the ARSACS community online
Stay tuned on the latest news and development. Join the ARSACS community via the different social media Facebook, Twitter, RareConnect.
RareConnect
RareConnect is an Online network of rare disease communities that brings together patients, families and groups. ARSACS is one community.
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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