The Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) is a rare and depilating neurological disease. It is found with much higher prevalences in several regions of the world, notably in Saguenay Lac St jean. This high prevalence is explained by a strong founder effect: in fact, more than 90% of ARSACS patients carry the same mutation which comes from a group of common ancestors. Despite this, the symptoms are not the same for everyone, which makes us think that other genetic factors could influence the progression of the disease. With a deep knowledge of each participant, we are able to link all ARSACS patients within a large family tree. Our project has three objectives: 1) analysis of the genome of ARSACS patients for whom we have a characterization detail clinical study, 2) complete genealogical reconstruction of ARSACS patients and their families and 3) linking of data to identify new regions of the genome linked to the disease. This study will allow us to better understand the genetic and cellular mechanisms that cause the disease and could eventually lead to new treatments to better help the patients and their families.
Duration: one year
Dr. Simon Girard, Professor
Université du Québec à Chicoutimi
Chicoutimi (Québec) G7H 2G1