ARSACS

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a debilating hereditary and progressive childhood neurological disorder. Symptoms generally appear between the ages of 2 and 5 years old. Already at that age, the child’s motor skills are affected. The disorder progresses throughout adolescence and adulthood (stiffness in the legs, increasing difficulty in walking, reduced manual dexterity, lack of coordination of the arms, speech difficulties, finally, the use of a wheelchair). Ataxia affects the spinal cord and the peripheral nerves. The name of the disorder refers to the Charlevoix and Saguenay regions because the disorder is more frequent in these regions. However anyone whose ancestors came from France and settled in the St. Laurence valley at the time of settlement of Québec in the XV11 century can be a carrier of the mutated gene responsible for the Ataxia. This disorder, discovered and described by Quebec scientists, is practically non-existent elsewhere in the world. The Ataxia gene can be passed through many generations without manifesting any symptoms.

In September 2006, a research contract was granted to the Centre hospitalier de l’Université de Montréal (CHUM). This is the first research to be undertaken since the identification of the Ataxia gene in 2000. It was therefore crucial for this research begins in order to discover a treatment for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).