Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Understanding a Rare Neurological Disease
What is ARSACS?
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare, inherited neurological disorder that primarily affects muscle control and movement. First described in the Charlevoix and Saguenay-Lac-Saint-Jean regions of Quebec, ARSACS is caused by mutations in the SACS gene, which results in spasticity, ataxia (impaired balance and coordination), and peripheral neuropathy. Symptoms often appear in early childhood and gradually progress, impacting motor functions, gait, speech, and dexterity.
The Mission Behind ARSACS Research and Community Support
The Ataxia Charlevoix-Saguenay Foundation’s core mission is to discover and develop a treatment for ARSACS. Since its inception in 2006, the foundation has played a vital role in supporting patients and funding research into the causes and potential therapies for this condition. Thanks to the tireless efforts of private donors and volunteers, over $1.15 million has been invested in innovative research projects, clinical trials, and the development of essential research tools, such as genetically modified mouse models and patient-derived cells.
Living with ARSACS: Hope and Community
Receiving a diagnosis of ARSACS can feel overwhelming, but individuals and families facing this challenge are not alone. The international ARSACS patient registry helps connect people living with the disease, fostering a supportive community and providing resources to improve quality of life. Ongoing research offers reason for hope—progress in gene therapy, drug repurposing, and understanding the biological mechanisms are advancing the possibility of future treatments.
How You Can Help
ARSACS is a rare disease, which means that awareness, advocacy, and funding are essential to drive progress. You can make a difference by getting involved with fundraising, sharing information about ARSACS, or even contributing scientific knowledge relevant to neurological diseases. The foundation welcomes patient and family engagement, as well as support from researchers and pharmaceutical partners to push scientific boundaries and ultimately find a cure.
Recent Advances and Future Directions
Significant strides have been made in the quest to understand and treat ARSACS. Recent research projects have explored the roles of Na+/H+ exchangers and glutamate transporters in Purkinje cell survival, and gene therapy studies in animal models are showing promising results. The foundation also collaborates internationally, participating in conferences and sharing knowledge across the scientific community. With continued help from donors, researchers, and advocates, there is real hope that a breakthrough therapy can be achieved for ARSACS patients worldwide.