This website provides information on patients with mutations in the SACS gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SACS gene is called Autosomal Recessive Ataxia of Charlevoix-Saguenay. It is a complex neurological disorder showing a triad of symptoms: a progressive ataxia, a spasticity and a peripheral neuropathy. Individuals affected can also develop nystagmus, hypermyelinayed fibers in the retina and other symptoms
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SACS gene.
Benoit J Gentil, PhD, McGill University, Montreal, Canada, firstname.lastname@example.org