by ARSACS | Nov 7, 2022 | Latest News
Drs Justin Wolter and Paul Chapple’ s ARSACS research “Multi-omic profiling reveals the ataxia protein sacsinis required for integrin trafficking and synaptic organization” has been published in the Cell Reports on November 1, 2022. Furthermore, the...
by ARSACS | Oct 26, 2022 | Latest News
As part of its mission, the Foundation is financing 15 teams of researchers in Quebec/Canada and internationally for a total amount of $940,000 for 2022-2023. 10 promissing projects whose objective is to discover a treatment for ARSACS. Project description.
by ARSACS | Oct 25, 2022 | Research in 2022
One of the hallmark features of ARSACS is dysfunction and eventual death of Purkinje cells in the cerebellum, which contributes to ataxia. Strikingly, not all Purkinje cells become ill and die: rather, specific patterns of vulnerability and resilience to cell death...
by ARSACS | Oct 25, 2022 | Research in 2022
It is well established in neurodegenerative diseases that early therapeutic intervention – ideally before neurodegenerative cascades begin to breakdown neuronal function – is key to the success of disease-modifying therapies. Yet we do not understand the...
by ARSACS | Oct 25, 2022 | Research in 2022
ARSACS is characterised by the lack of sacsin expression, and the formation of intermediate filaments bundles in neurons and fibroblasts derived from skin biopsies. Our strategy over the last years has been aimed at developing a replacement therapy, by peptide and/or...
by ARSACS | Oct 25, 2022 | Research in 2022
Glial cells play key roles in developmental and neurodegenerative disorders, including some with remarkable similarities with ARSACS, such as Alexander disease and Giant Axonal Neuropathy. We and others have found high levels of sacsin expression in rodent and human...
by ARSACS | Oct 25, 2022 | Research in 2022
The viability of neurons in the brain depends on a complex series of interconnected biochemical reactions that constitute cellular metabolism. Disruption of these metabolic pathways is associated with neurological conditions, including Alzheimer’s and Parkinson’s....
by ARSACS | Oct 25, 2022 | Research in 2022
Despite extensive research, the underlying causes of neurodegeneration in ARSACS still remain unclear, and thus there is a need for identifying effective therapies for ARSACS patients. My lab over the past several years has focused on characterizing the changes of...
by ARSACS | Oct 25, 2022 | Research in 2022
We identified in murine Purkinje cells a specific interaction of sacsin with proteins regulating transmembrane ion balance, which are required for tuning the firing properties of these neurons. Our functional studies support a deregulation of ion conductance in...
by ARSACS | Oct 25, 2022 | Research in 2022
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a juvenile progressive movement disorder caused by mutations in a gene called SACS, which produces a protein with the same name (SACS or sacsin). The disease is characterized by very early onset,...
by ARSACS | Oct 25, 2022 | Research in 2022
Retinal and eye abnormalities are among the clinical hallmarks in ARSACS and have been described since first reports. Those defects have been confined to an unexplored field by a molecular point of view, compared to those related to brain and cerebellum that have been...
by ARSACS | Oct 25, 2022 | Research in 2022
ARSACS is incurable neurodegenerative disorder and there is an urgent need to define new therapies. The expected results of this project are to evaluate, through preclinical studies, the effectiveness and usefulness of an experimental diet containing neuroprotective...
by ARSACS | Oct 3, 2022 | Latest News
Thank you for participating in the PROSPAX surveys! There was a good response and your input will be used to develop an assessment tool to measure changes in a person living with ARSACS over time. Survey results.
by ARSACS | Oct 2, 2022 | Latest News
Mr. Chiara, president and founder of MACH, is one of the main players in the real estate field in Quebec and Canada. The 15th edition of the “Diner des Producteurs”, annual fundraising event for ARSACS, will take place on October 27,2022. Reservation...
by ARSACS | Sep 29, 2022 | Latest News
In July 2022, the PROSPAX and TREAT-ARCA consortia held a joint annual meeting in Berlin, Germany, including researchers, clinicians, and representatives from Euro-ataxia and the Ataxia Charlevoix-Saguenay Foundation. A fantastic opportunity for researchers around the...
by ARSACS | Sep 26, 2022 | Latest News
Dr. Mohan Babu’s article was published by Elsevier in September 2022. Dr. Babu is part of the ARSACS research team and has received funding from the Foundation for this project. Elsevier is an academic publishing company specializing in scientific, technical,...
by ARSACS | Jul 17, 2022 | Latest News
Registration/sponsorship/donation form
by ARSACS | Jul 14, 2022 | Latest News
Research report from Dr. Paul Chapple, Barts and London Queen Mary’s School of Medicine and Dentistry, London UK – a 3 year project financed by the Foundation.
by ARSACS | Jun 27, 2022 | Latest News
30 countries are represented in the ARSACS International Patient Registry. Map of registrants. To all of you who are registered, thank you for your participation and for helping the research. The registry is an essential tool for advancing research and for clinical...
by ARSACS | Jun 16, 2022 | Latest News
“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.
