Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU-Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from Newfoundland: hereditary spastic ataxia (HSA). This condition is characterized by lower-limb spasticity (or stiffness) and ataxia (lack of coordination), the latter leading to speech and swallowing problems, and eye movement abnormalities. The disease is not deadly, but people start developing gait problems between 10 to 20 years of age, walk with a cane in their 30s, and in the most severe cases, are wheel-chair bound in their 50s. It has been shown that HSA is transmitted from the affected parent to the child in a dominant fashion, which means there is a 50% chance of the child having the mutation.
